Variant ID: 2-21229160-C-T

NM_000384.2(APOB):c.10580G>A;(p.Arg3527Gln)

This variant was identified in 90 publications




Publications:


Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics
V Vasilyev, F Zakharova, T Bogoslovskay, M Mandelshtam
Publication Date: 2020

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 33391333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov
Publication Date: 2021-01

Variant appearance in text: APOB: 10580G>T; Arg3527Leu; rs5742904
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets.

Database : The Journal Of Biological Databases And Curation
MJ Berger, HE Williams, R Barrett, AD Zimmer, W McKennon, H Hong, J Ginsberg, AY Zhou, CL Neben
Publication Date: 2020-01-01

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 33181822
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics
M Vrablik, L Tichý, T Freiberger, V Blaha, M Satny, JA Hubacek
Publication Date: 2020

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 33133164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.

Biomedicines
JM Martín-Campos, S Ruiz-Nogales, D Ibarretxe, E Ortega, E Sánchez-Pujol, M Royuela-Juncadella, À Vila, C Guerrero, A Zamora, C Soler I Ferrer, JA Arroyo, G Carreras, S Martínez-Figueroa, R Roig, N Plana, F Blanco-Vaca, Xarxa d'Unitats de Lípids I Arteriosclerosi Xula
Publication Date: 2020-09-15

Variant appearance in text: APOB: 10580G>A
PubMed Link: 32942679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence, control, and treatment of diabetes, hypertension, and high cholesterol in the Amish.

Bmj Open Diabetes Research & Care
S He, KA Ryan, EA Streeten, PF McArdle, M Daue, D Trubiano, Y Rohrer, P Donnelly, M Drolet, S Newcomer, S Shaub, N Weitzel, AR Shuldiner, TI Pollin, BD Mitchell
Publication Date: 2020-08

Variant appearance in text: APOB: R3527Q
PubMed Link: 32843497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
CC Huang, MJ Charng
Publication Date: 2020

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel, Switzerland)
A Mickiewicz, M Futema, A Ćwiklinska, A Kuchta, M Jankowski, M Kaszubowski, M Chmara, B Wasąg, M Fijałkowski, M Jaguszewski, SE Humphries, M Gruchała
Publication Date: 2020-05-20

Variant appearance in text: APOB: R3527Q
PubMed Link: 32443900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
AE Semenova, IV Sergienko, D García-Giustiniani, L Monserrat, AB Popova, DN Nozadze, MV Ezhov
Publication Date: 2020-05-14

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
V Moldovan, C Banescu, M Dobreanu
Publication Date: 2020-02

Variant appearance in text: APOB: R3527Q; rs5742904
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
A Garg, S Fazio, PB Duell, A Baass, C Udata, T Joh, T Riel, M Sirota, D Dettling, H Liang, PD Garzone, B Gumbiner, H Wan
Publication Date: 2020-01-01

Variant appearance in text: APOB: R3527Q
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications
MT Oetjens, MA Kelly, AC Sturm, CL Martin, DH Ledbetter
Publication Date: 2019-10-25

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 31653860
Variant Present in the following documents:
  • Main text
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
K Kuchenbaecker, N Telkar, T Reiker, RG Walters, K Lin, A Eriksson, D Gurdasani, A Gilly, L Southam, E Tsafantakis, M Karaleftheri, J Seeley, A Kamali, G Asiki, IY Millwood, M Holmes, H Du, Y Guo, M Kumari, G Dedoussis, L Li, Z Chen, MS Sandhu, E Zeggini,
Publication Date: 2019-09-24

Variant appearance in text: APOB: Arg3527Gln; rs5742904
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM2_ESM.pdf
View BVdb publication page



Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson
Publication Date: 2018-12

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 31106297
Variant Present in the following documents:
  • Main text
  • nihms-1512622.pdf
  • NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf
View BVdb publication page



Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2019-04-22

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 31011892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Subclinical Coronary Atherosclerosis.

Current Genetic Medicine Reports
LF Bielak, PA Peyser
Publication Date: 2018-09

Variant appearance in text: APOB: R3527Q
PubMed Link: 30854262
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: rs5742904
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine
ML Chan, CL Cheung, AC Lee, CY Yeung, CW Siu, JY Leung, HK Pang, KC Tan
Publication Date: 2019-02

Variant appearance in text: APOB: 10580G>A
PubMed Link: 30592178
Variant Present in the following documents:
  • Main text
View BVdb publication page



Increased usual physical activity is associated with a blunting of the triglyceride response to a high-fat meal.

Journal Of Clinical Lipidology
BD Mitchell, G Kalra, KA Ryan, M Zhang, C Sztalryd, NI Steinle, SI Taylor, S Snitker, JP Lewis, M Miller, AR Shuldiner, H Xu
Publication Date: 2019

Variant appearance in text: APOB: R3527Q
PubMed Link: 30553757
Variant Present in the following documents:
  • Main text
  • nihms-1513140.pdf
View BVdb publication page



Effects of polymorphisms in APOB, APOE, HSD11β1, PLIN4, and ADIPOQ genes on lipid profile and anthropometric variables related to obesity in children and adolescents.

Genetics And Molecular Biology
CC Gasparin, N Leite, LV Tureck, RLR Souza, GE Milano-Gai, LR Silva, WA Lopes, L Furtado-Alle
Publication Date: 2018

Variant appearance in text: APOB: 10580G>A; rs5742904
PubMed Link: 30507998
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Lipids In Health And Disease
D Sun, BY Zhou, S Li, NL Sun, Q Hua, SL Wu, YS Cao, YL Guo, NQ Wu, CG Zhu, Y Gao, CJ Cui, G Liu, JJ Li
Publication Date: 2018-11-06

Variant appearance in text: APOB: 10580G>A; R3527Q
PubMed Link: 30400955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Translational Psychiatry
RL Kember, L Hou, X Ji, LH Andersen, A Ghorai, LN Estrella, L Almasy, FJ McMahon, C Brown, M Bućan
Publication Date: 2018-10-12

Variant appearance in text: rs5742904
PubMed Link: 30315151
Variant Present in the following documents:
  • 41398_2018_226_MOESM2_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
M Alver, M Palover, A Saar, K Läll, SM Zekavat, N Tõnisson, L Leitsalu, A Reigo, T Nikopensius, T Ainla, M Kals, R Mägi, SB Gabriel, J Eha, ES Lander, A Irs, A Philippakis, T Marandi, P Natarajan, A Metspalu, S Kathiresan, T Esko
Publication Date: 2019-05

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 30270359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.

Nature Communications
P Natarajan, GM Peloso, SM Zekavat, M Montasser, A Ganna, M Chaffin, AV Khera, W Zhou, JM Bloom, JM Engreitz, J Ernst, JR O'Connell, SE Ruotsalainen, M Alver, A Manichaikul, WC Johnson, JA Perry, T Poterba, C Seed, IL Surakka, T Esko, S Ripatti, V Salomaa, A Correa, RS Vasan, M Kellis, BM Neale, ES Lander, G Abecasis, B Mitchell, SS Rich, JG Wilson, LA Cupples, JI Rotter, CJ Willer, S Kathiresan,
Publication Date: 2018-08-23

Variant appearance in text: APOB: R3527Q
PubMed Link: 30140000
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

American Journal Of Human Genetics
JC Sapp, JJ Johnston, K Driscoll, AR Heidlebaugh, A Miren Sagardia, DN Dogbe, KL Umstead, E Turbitt, I Alevizos, J Baron, C Bönnemann, B Brooks, S Donkervoort, YH Jee, WM Linehan, FJ McMahon, J Moss, JC Mullikin, D Nielsen, E Pelayo, AT Remaley, R Siegel, H Su, C Zarate, , TA Manolio, BB Biesecker, LG Biesecker
Publication Date: 2018-09-06

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 30122538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Y Zhou, R Mägi, L Milani, VM Lauschke
Publication Date: 2018-10

Variant appearance in text: APOB: R3527Q; rs5742904
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing for a patient with suspected familial hypercholesterolaemia.

Bmj Case Reports
V Mudgundi, G Williams, K Manou, R Block
Publication Date: 2018-07-19

Variant appearance in text: APOB: 10580G>A; R3527Q
PubMed Link: 30030251
Variant Present in the following documents:
  • Main text
View BVdb publication page



An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels.

Circulation
ME Montasser, EA O'Hare, X Wang, AD Howard, R McFarland, JA Perry, KA Ryan, K Rice, CE Jaquish, AR Shuldiner, M Miller, BD Mitchell, NA Zaghloul, YC Chang
Publication Date: 2018-09-25

Variant appearance in text: APOB: R3527Q
PubMed Link: 29593015
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal
HN Kim, SS Kweon, MH Shin
Publication Date: 2018-01

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 29399563
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports
S Elbitar, D Susan-Resiga, Y Ghaleb, P El Khoury, G Peloso, N Stitziel, JP Rabès, V Carreau, J Hamelin, A Ben-Djoudi-Ouadda, E Bruckert, C Boileau, NG Seidah, M Varret, M Abifadel
Publication Date: 2018-01-31

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 29386597
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Scientific Reports
RH Fairoozy, M Futema, R Vakili, MR Abbaszadegan, S Hosseini, M Aminzadeh, H Zaeri, M Mobini, SE Humphries, A Sahebkar
Publication Date: 2017-12-06

Variant appearance in text: APOB: R3527Q
PubMed Link: 29213121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: rs5742904
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.

Journal Of Clinical And Diagnostic Research : Jcdr
E Nuglozeh
Publication Date: 2017-06

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 28764195
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

Plos One
A Yeo, L Li, L Warren, J Aponte, D Fraser, K King, K Johansson, A Barnes, C MacPhee, R Davies, S Chissoe, E Tarka, ML O'Donoghue, HD White, L Wallentin, D Waterworth
Publication Date: 2017

Variant appearance in text: rs5742904
PubMed Link: 28753643
Variant Present in the following documents:
  • pone.0182115.s015.xlsx
  • pone.0182115.s016.xlsx
View BVdb publication page



Risk prediction of developing venous thrombosis in combined oral contraceptive users.

Plos One
A McDaid, E Logette, V Buchillier, M Muriset, P Suchon, TD Pache, G Tanackovic, Z Kutalik, J Michaud
Publication Date: 2017

Variant appearance in text: rs5742904
PubMed Link: 28750087
Variant Present in the following documents:
  • pone.0182041.s001.docx
View BVdb publication page



Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Atherosclerosis
M Sharifi, E Higginson, S Bos, A Gallivan, D Harvey, KW Li, A Abeysekera, A Haddon, H Ashby, KE Shipman, JA Cooper, M Futema, JE Roeters van Lennep, EJG Sijbrands, M Labib, D Nair, SE Humphries
Publication Date: 2017-08

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 28549500
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
L Bomba, K Walter, N Soranzo
Publication Date: 2017-04-27

Variant appearance in text: rs5742904
PubMed Link: 28449691
Variant Present in the following documents:
  • 13059_2017_1212_MOESM1_ESM.xlsx
View BVdb publication page



Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.

Diabetes
H Xu, KA Ryan, TJ Jaworek, L Southam, JG Reid, JD Overton, A Baras, MK Puurunen, E Zeggini, SI Taylor, AR Shuldiner, BD Mitchell
Publication Date: 2017-07

Variant appearance in text: APOB: R3527Q; rs5742904
PubMed Link: 28428224
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2017-05

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 28405938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Atherosclerosis
M Futema, JA Cooper, M Charakida, C Boustred, N Sattar, J Deanfield, DA Lawlor, NJ Timpson, , SE Humphries, AD Hingorani
Publication Date: 2017-05

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 28349888
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page



Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

Circulation. Cardiovascular Genetics
SB Seidelmann, E Smith, L Subrahmanyan, D Dykas, MD Abou Ziki, B Azari, F Hannah-Shmouni, Y Jiang, JG Akar, M Marieb, D Jacoby, AE Bale, RP Lifton, A Mani
Publication Date: 2017-02

Variant appearance in text: APOB: R3527Q; rs5742904
PubMed Link: 28087566
Variant Present in the following documents:
  • NIHMS838176-supplement-001573_-_Supplemental_Material.pdf
View BVdb publication page



Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study.

Bmc Cardiovascular Disorders
MS Fawzy, EA Toraih, NM Aly, A Fakhr-Eldeen, DI Badran, MH Hussein
Publication Date: 2017-01-13

Variant appearance in text: rs5742904
PubMed Link: 28086795
Variant Present in the following documents:
  • 12872_2016_456_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

Circulation. Cardiovascular Genetics
P Natarajan, JC Bis, LF Bielak, AJ Cox, M Dörr, MF Feitosa, N Franceschini, X Guo, SJ Hwang, A Isaacs, MA Jhun, M Kavousi, R Li-Gao, LP Lyytikäinen, RE Marioni, U Schminke, NO Stitziel, H Tada, J van Setten, AV Smith, D Vojinovic, LR Yanek, J Yao, LM Yerges-Armstrong, N Amin, U Baber, IB Borecki, JJ Carr, YI Chen, LA Cupples, PA de Jong, H de Koning, BD de Vos, A Demirkan, V Fuster, OH Franco, MO Goodarzi, TB Harris, SR Heckbert, G Heiss, U Hoffmann, A Hofman, I Išgum, JW Jukema, M Kähönen, SL Kardia, BG Kral, LJ Launer, J Massaro, R Mehran, BD Mitchell, TH Mosley, R de Mutsert, AB Newman, KD Nguyen, KE North, JR O'Connell, M Oudkerk, JS Pankow, GM Peloso, W Post, MA Province, LM Raffield, OT Raitakari, DF Reilly, F Rivadeneira, F Rosendaal, S Sartori, KD Taylor, A Teumer, S Trompet, ST Turner, AG Uitterlinden, D Vaidya, A van der Lugt, U Völker, JM Wardlaw, CL Wassel, S Weiss, MK Wojczynski, DM Becker, LC Becker, E Boerwinkle, DW Bowden, IJ Deary, A Dehghan, SB Felix, V Gudnason, T Lehtimäki, R Mathias, DO Mook-Kanamori, BM Psaty, DJ Rader, JI Rotter, JG Wilson, CM van Duijn, H Völzke, S Kathiresan, PA Peyser, CJ O'Donnell,
Publication Date: 2016-12

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 27872105
Variant Present in the following documents:
  • Main text
  • NIHMS853695-supplement-001572_-_Supplemental_Material.pdf
View BVdb publication page



Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Science Translational Medicine
P Natarajan, NB Gold, AG Bick, H McLaughlin, P Kraft, HL Rehm, GM Peloso, JG Wilson, A Correa, JG Seidman, CE Seidman, S Kathiresan, RC Green
Publication Date: 2016-11-09

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 27831900
Variant Present in the following documents:
  • Main text
  • NIHMS942134-supplement-supplement_1.pdf
View BVdb publication page



The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Journal Of Medical Genetics
S Leigh, M Futema, R Whittall, A Taylor-Beadling, M Williams, JT den Dunnen, SE Humphries
Publication Date: 2017-04

Variant appearance in text: APOB: R3527Q
PubMed Link: 27821657
Variant Present in the following documents:
  • Main text
View BVdb publication page



The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
R Mehta, R Zubirán, AJ Martagón, A Vazquez-Cárdenas, Y Segura-Kato, MT Tusié-Luna, CA Aguilar-Salinas
Publication Date: 2016-12

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 27777316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
S Kanoni, NG Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, AE Farmaki, S Franks, H Grallert, JH Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AI Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CN Palmer, , A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, MR Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas
Publication Date: 2016-09-15

Variant appearance in text: rs5742904
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.

Human Genome Variation
FA Al-Allaf, M Athar, Z Abduljaleel, A Bouazzaoui, MM Taher, R Own, AF Al-Allaf, I AbuMansour, Z Azhar, FA Ba-Hammam, H Abalkhail, A Alashwal
Publication Date: 2014

Variant appearance in text: APOB: R3527Q
PubMed Link: 27081511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2016-06-07

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
  • mmc1.doc
View BVdb publication page



Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations.

Journal Of Clinical Lipidology
Z Ahmad, X Li, J Wosik, P Mani, J Petr, G McLeod, S Murad, L Song, B Adams-Huet, A Garg
Publication Date: 2016

Variant appearance in text: APOB: R3527Q
PubMed Link: 26892126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in NOS3, MTHFR, APOB and TNF-α Genes and Risk of Coronary Atherosclerotic Lesions in Iranian Patients.

Research In Cardiovascular Medicine
MM Heidari, M Khatami, M Hadadzadeh, M Kazemi, S Mahamed, P Malekzadeh, M Mirjalili
Publication Date: 2016-02

Variant appearance in text: rs5742904
PubMed Link: 26878010
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
  • jlrP055699.pdf
View BVdb publication page



Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Scientific Reports
JA Fernández-Higuero, A Etxebarria, A Benito-Vicente, AC Alves, JL Arrondo, H Ostolaza, M Bourbon, C Martin
Publication Date: 2015-12-08

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 26643808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.

Plos One
PB Celestino-Soper, A Doytchinova, HA Steiner, A Uradu, TC Lynnes, WJ Groh, JM Miller, H Lin, H Gao, Z Wang, Y Liu, PS Chen, M Vatta
Publication Date: 2015

Variant appearance in text: APOB: 10580G>A; R3527Q; rs5742904
PubMed Link: 26636822
Variant Present in the following documents:
  • Main text
  • pone.0143588.s005.docx
View BVdb publication page



Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
Publication Date: 2015-09-28

Variant appearance in text: APOB: Arg3527Gln; rs5742904
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page



Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
Publication Date: 2015-12

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 26374825
Variant Present in the following documents:
  • Main text
  • hcg-8-823-s003.pdf
View BVdb publication page



The UK10K project identifies rare variants in health and disease.

Nature
, K Walter, JL Min, J Huang, L Crooks, Y Memari, S McCarthy, JR Perry, C Xu, M Futema, D Lawson, V Iotchkova, S Schiffels, AE Hendricks, P Danecek, R Li, J Floyd, LV Wain, I Barroso, SE Humphries, ME Hurles, E Zeggini, JC Barrett, V Plagnol, JB Richards, CM Greenwood, NJ Timpson, R Durbin, N Soranzo
Publication Date: 2015-10-01

Variant appearance in text: rs5742904
PubMed Link: 26367797
Variant Present in the following documents:
  • NIHMS64288-supplement-Tables_S1-S19.xlsx
View BVdb publication page



Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: APOB: 10580G>A; R3527Q
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee
Publication Date: 2015

Variant appearance in text: APOB: R3527Q
PubMed Link: 25962062
Variant Present in the following documents:
  • Main text
View BVdb publication page



Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?

Atherosclerosis
M Futema, M Kumari, C Boustred, M Kivimaki, SE Humphries
Publication Date: 2015-04

Variant appearance in text: APOB: R3527Q
PubMed Link: 25682026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry
M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries
Publication Date: 2015-01

Variant appearance in text: APOB: R3527Q
PubMed Link: 25414277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics
PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman
Publication Date: 2014-06-23

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine
C Maglio, RM Mancina, BM Motta, M Stef, C Pirazzi, L Palacios, N Askaryar, J Borén, O Wiklund, S Romeo
Publication Date: 2014-10

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 24785115
Variant Present in the following documents:
  • Main text
  • joim0276-0396-sd1.doc
View BVdb publication page



Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics
OL Holmen, H Zhang, Y Fan, DH Hovelson, EM Schmidt, W Zhou, Y Guo, J Zhang, A Langhammer, ML Løchen, SK Ganesh, L Vatten, F Skorpen, H Dalen, J Zhang, S Pennathur, J Chen, C Platou, EB Mathiesen, T Wilsgaard, I Njølstad, M Boehnke, YE Chen, GR Abecasis, K Hveem, CJ Willer
Publication Date: 2014-04

Variant appearance in text: APOB: Arg3527Gln; rs5742904
PubMed Link: 24633158
Variant Present in the following documents:
  • NIHMS570373-supplement-1.pdf
View BVdb publication page



Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate.

Plos Genetics
B Georgi, D Craig, RL Kember, W Liu, I Lindquist, S Nasser, C Brown, JA Egeland, SM Paul, M Bućan
Publication Date: 2014-03

Variant appearance in text: rs5742904
PubMed Link: 24625924
Variant Present in the following documents:
  • pgen.1004229.s013.xlsx
View BVdb publication page



Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

American Journal Of Human Genetics
GM Peloso, PL Auer, JC Bis, A Voorman, AC Morrison, NO Stitziel, JA Brody, SA Khetarpal, JR Crosby, M Fornage, A Isaacs, J Jakobsdottir, MF Feitosa, G Davies, JE Huffman, A Manichaikul, B Davis, K Lohman, AY Joon, AV Smith, ML Grove, P Zanoni, V Redon, S Demissie, K Lawson, U Peters, C Carlson, RD Jackson, KK Ryckman, RH Mackey, JG Robinson, DS Siscovick, PJ Schreiner, JC Mychaleckyj, JS Pankow, A Hofman, AG Uitterlinden, TB Harris, KD Taylor, JM Stafford, LM Reynolds, RE Marioni, A Dehghan, OH Franco, AP Patel, Y Lu, G Hindy, O Gottesman, EP Bottinger, O Melander, M Orho-Melander, RJ Loos, S Duga, PA Merlini, M Farrall, A Goel, R Asselta, D Girelli, N Martinelli, SH Shah, WE Kraus, M Li, DJ Rader, MP Reilly, R McPherson, H Watkins, D Ardissino, , Q Zhang, J Wang, MY Tsai, HA Taylor, A Correa, ME Griswold, LA Lange, JM Starr, I Rudan, G Eiriksdottir, LJ Launer, JM Ordovas, D Levy, YD Chen, AP Reiner, C Hayward, O Polasek, IJ Deary, IB Borecki, Y Liu, V Gudnason, JG Wilson, CM van Duijn, C Kooperberg, SS Rich, BM Psaty, JI Rotter, CJ O'Donnell, K Rice, E Boerwinkle, S Kathiresan, LA Cupples
Publication Date: 2014-02-06

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 24507774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Molecular Genetics & Genomic Medicine
ER Thomas, SS Atanur, PJ Norsworthy, V Encheva, AP Snijders, L Game, J Vandrovcova, A Siddiq, M Seed, AK Soutar, TJ Aitman
Publication Date: 2013-09

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 24498611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
DJ Liu, GM Peloso, X Zhan, OL Holmen, M Zawistowski, S Feng, M Nikpay, PL Auer, A Goel, H Zhang, U Peters, M Farrall, M Orho-Melander, C Kooperberg, R McPherson, H Watkins, CJ Willer, K Hveem, O Melander, S Kathiresan, GR Abecasis
Publication Date: 2014-02

Variant appearance in text: rs5742904
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



Clinical utility gene card for: hyperlipoproteinemia, TYPE II.

European Journal Of Human Genetics : Ejhg
U Kassner, M Wühle-Demuth, I Missala, SE Humphries, E Steinhagen-Thiessen, I Demuth
Publication Date: 2014-07

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 24253857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Decreased bone mineral density in subjects carrying familial defective apolipoprotein B-100.

The Journal Of Clinical Endocrinology And Metabolism
LM Yerges-Armstrong, H Shen, KA Ryan, EA Streeten, AR Shuldiner, BD Mitchell
Publication Date: 2013-12

Variant appearance in text: rs5742904
PubMed Link: 24106285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

Cholesterol
I Kindt, R Huijgen, M Boekel, KJ van der Gaag, JC Defesche, JJ Kastelein, P de Knijff
Publication Date: 2013

Variant appearance in text: APOB: 10580G>A; R3527Q
PubMed Link: 23936638
Variant Present in the following documents:
  • 531658.f1.doc
  • aaaaaMain text
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
DN Cooper, M Krawczak, C Polychronakos, C Tyler-Smith, H Kehrer-Sawatzki
Publication Date: 2013-10

Variant appearance in text: rs5742904
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic screening for homozygous and heterozygous familial hypercholesterolemia.

The Application Of Clinical Genetics
MC Izar, VA Machado, FA Fonseca
Publication Date: 2010

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 23776359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries
Publication Date: 2013-07

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 23669246
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: APOB: R3527Q
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress in genetic association studies of plasma lipids.

Current Opinion In Lipidology
FW Asselbergs, RC Lovering, F Drenos
Publication Date: 2013-04

Variant appearance in text: APOB: R3527Q; rs5742904
PubMed Link: 23385652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epistatic study reveals two genetic interactions in blood pressure regulation.

Bmc Medical Genetics
NC Ndiaye, el S Said, MG Stathopoulou, G Siest, MY Tsai, S Visvikis-Siest
Publication Date: 2013-01-08

Variant appearance in text: rs5742904
PubMed Link: 23298194
Variant Present in the following documents:
  • 1471-2350-14-2-S1.doc
View BVdb publication page



Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Z Ahmad, B Adams-Huet, C Chen, A Garg
Publication Date: 2012-12

Variant appearance in text: APOB: 10580G>A; R3527Q
PubMed Link: 23064986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos
Publication Date: 2012-11-02

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 23063622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: APOB: 10580G>A; R3527Q
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.10580G>A p.Arg3527Gln missense_variant 26/29 -
NM_000384.3 c.10580G>A p.Arg3527Gln missense_variant 26/29 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -