Variant ID: 8-19819724-C-G

NM_000237.2(LPL):c.1421C>G;(p.Ser474*)

This variant was identified in 305 publications




Publications:


Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
JB Nielsen, O Rom, I Surakka, SE Graham, W Zhou, T Roychowdhury, LG Fritsche, SA Gagliano Taliun, C Sidore, Y Liu, ME Gabrielsen, AH Skogholt, B Wolford, W Overton, Y Zhao, J Chen, H Zhang, WE Hornsby, A Acheampong, A Grooms, A Schaefer, GJM Zajac, L Villacorta, J Zhang, B Brumpton, M Løset, V Rai, PR Lundegaard, MS Olesen, KD Taylor, ND Palmer, YD Chen, SH Choi, SA Lubitz, PT Ellinor, KC Barnes, M Daya, N Rafaels, ST Weiss, J Lasky-Su, RP Tracy, RS Vasan, LA Cupples, RA Mathias, LR Yanek, LC Becker, PA Peyser, LF Bielak, JA Smith, S Aslibekyan, BA Hidalgo, DK Arnett, MR Irvin, JG Wilson, SK Musani, A Correa, SS Rich, X Guo, JI Rotter, BA Konkle, JM Johnsen, AE Ashley-Koch, MJ Telen, VA Sheehan, J Blangero, JE Curran, JM Peralta, C Montgomery, WH Sheu, RH Chung, K Schwander, SM Nouraie, VR Gordeuk, Y Zhang, C Kooperberg, AP Reiner, RD Jackson, ER Bleecker, DA Meyers, X Li, S Das, K Yu, J LeFaive, A Smith, T Blackwell, D Taliun, S Zollner, L Forer, S Schoenherr, C Fuchsberger, A Pandit, M Zawistowski, S Kheterpal, CM Brummett, P Natarajan, D Schlessinger, S Lee, HM Kang, F Cucca, OL Holmen, BO Åsvold, M Boehnke, S Kathiresan, GR Abecasis, YE Chen, CJ Willer, K Hveem
Publication Date: 2020-12-18

Variant appearance in text: LPL: S474X; rs328
PubMed Link: 33339817
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants of Lipoprotein Lipase and Regulatory Factors Associated with Alzheimer's Disease Risk.

International Journal Of Molecular Sciences
K D Bruce, M Tang, P Reigan, R H Eckel
Publication Date: 2020-11-06

Variant appearance in text: rs328
PubMed Link: 33172164
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comparison of a ketogenic diet with a LowGI/nutrigenetic diet over 6 months for weight loss and 18-month follow-up.

Bmc Nutrition
M Vranceanu, C Pickering, L Filip, IE Pralea, S Sundaram, A Al-Saleh, DS Popa, KA Grimaldi
Publication Date: 2020

Variant appearance in text: rs328
PubMed Link: 32983551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Medical Sciences (Basel, Switzerland)
A Chuluun-Erdene, O Sengeragchaa, TA Altangerel, P Sanjmyatav, B Dagdan, S Battulga, L Enkhbat, N Byambasuren, M Malchinkhuu, M Janlav
Publication Date: 2020-09-02

Variant appearance in text: rs328
PubMed Link: 32887252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of polymorphism genes , , and with risk of hyperinsulinism and insulin resistance in the Kazakh population.

Biomedical Reports
A Shakhanova, N Aukenov, A Nurtazina, M Massabayeva, D Babenko, M Adiyeva, N Shaimardonov
Publication Date: 2020-11

Variant appearance in text: rs328
PubMed Link: 32843963
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically Mediated Lipid Metabolism and Risk of Insulin Resistance: Insights from Mendelian Randomization Studies.

Journal Of Lipid And Atherosclerosis
SY Bu
Publication Date: 2019-09

Variant appearance in text: rs328
PubMed Link: 32821703
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Hypertriglyceridemia.

Frontiers In Endocrinology
JS Dron, RA Hegele
Publication Date: 2020

Variant appearance in text: N/A
PubMed Link: 32793115
Variant Present in the following documents:
View BVdb publication page



Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Global Heart
F Alnouri, FA Al-Allaf, M Athar, Z Abduljaleel, M Alabdullah, D Alammari, M Alanazi, F Alkaf, A Allehyani, MA Alotaiby, A Alshehri, A Bouazzaoui, H Karrar, MM Taher
Publication Date: 2020-02-28

Variant appearance in text: LPL: 1421C>G; S474*; rs328
PubMed Link: 32489792
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: N/A
PubMed Link: 32423031
Variant Present in the following documents:
View BVdb publication page



Genetic Polymorphisms, Mediterranean Diet and Microbiota-Associated Urolithin Metabotypes can Predict Obesity in Childhood-Adolescence.

Scientific Reports
A Cortés-Martín, G Colmenarejo, MV Selma, JC Espín
Publication Date: 2020-05-12

Variant appearance in text: rs328
PubMed Link: 32398726
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impact of Aerobic Exercise and Badminton on HDL Cholesterol Levels in Taiwanese Adults.

Nutrients
Y Nassef, KJ Lee, ON Nfor, DM Tantoh, MC Chou, YP Liaw
Publication Date: 2020-04-25

Variant appearance in text: rs328
PubMed Link: 32344797
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.

Lipids In Health And Disease
XY Li, N Pu, WW Chen, XL Shi, GF Zhang, L Ke, B Ye, ZH Tong, YH Wang, G Liu, JM Chen, Q Yang, WQ Li, JS Li
Publication Date: 2020-04-07

Variant appearance in text: N/A
PubMed Link: 32264896
Variant Present in the following documents:
View BVdb publication page



A lipase fusion feasts on fat.

The Journal Of Biological Chemistry
PMM Ruppert, S Kersten
Publication Date: 2020-03-06

Variant appearance in text: N/A
PubMed Link: 32144145
Variant Present in the following documents:
View BVdb publication page



Quantile-dependent expressivity of postprandial lipemia.

Plos One
PT Williams
Publication Date: 2020

Variant appearance in text: rs328
PubMed Link: 32101585
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene flow between subpopulations of gray snapper (Lutjanus griseus) from the Caribbean and Gulf of Mexico.

Peerj
OJ Rosado-Nic, JD Hogan, JH Lara-Arenas, R Rosas-Luis, L Carrillo, CA Villegas-Sánchez
Publication Date: 2020

Variant appearance in text: rs328
PubMed Link: 32095340
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of lipoprotein lipase gene polymorphisms with coronary artery disease among Filipinos.

International Journal Of Molecular Epidemiology And Genetics
FR Gerodias, FEB Posas, MO Baclig, ECT Repotente, JFB Pelat, GG Rogelio, MCZ San Jose, CA Mapua, MLG Daroy
Publication Date: 2019

Variant appearance in text: rs328
PubMed Link: 31988698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utility of genetic variants to predict prognosis in coronary artery disease patients receiving statin treatment.

International Journal Of Clinical And Experimental Pathology
L Zhu, X Ji, L Jiang, Y Zhu, Y Xu, Q Jiang, J Bao, J Ye, H Sheng, H Yu
Publication Date: 2017

Variant appearance in text: rs328
PubMed Link: 31966745
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuroimaging genetics studies of specific reading disability and developmental language disorder: A review.

Language And Linguistics Compass
N Landi, M Perdue
Publication Date: 2019-09

Variant appearance in text: rs328
PubMed Link: 31844423
Variant Present in the following documents:
  • Bookshelf_NBK174586.pdf
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs328
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
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: rs328
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
  • 41467_2019_12026_MOESM2_ESM.pdf
View BVdb publication page



The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients
S Hossain, MA Beydoun, MF Kuczmarski, S Tajuddin, MK Evans, AB Zonderman
Publication Date: 2019-09-11

Variant appearance in text: rs328
PubMed Link: 31514322
Variant Present in the following documents:
  • nutrients-11-02181-s001.pdf
View BVdb publication page



Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report.

Bmc Medical Genetics
M Li, W Chen, X Sun, Z Wang, X Zou, H Wei, Z Wang, W Chen
Publication Date: 2019-09-12

Variant appearance in text: rs328
PubMed Link: 31510946
Variant Present in the following documents:
  • 12881_2019_880_MOESM3_ESM.docx
View BVdb publication page



A Frameshift Variant in the CHST9 Gene Identified by Family-Based Whole Genome Sequencing Is Associated with Schizophrenia in Chinese Population.

Scientific Reports
J Chen, JS Wu, T Mize, M Moreno, M Hamid, F Servin, B Bashy, Z Zhao, P Jia, MT Tsuang, KS Kendler, M Xiong, X Chen
Publication Date: 2019-09-03

Variant appearance in text: rs328
PubMed Link: 31481703
Variant Present in the following documents:
  • 41598_2019_49052_MOESM5_ESM.xlsx
View BVdb publication page



Tolerability and Safety of a Nutritional Supplement with Potential as Adjuvant in Colorectal Cancer Therapy: A Randomized Trial in Healthy Volunteers.

Nutrients
M Gómez de Cedrón, JM Laparra, V Loria-Kohen, S Molina, J Moreno-Rubio, JJ Montoya, C Torres, E Casado, G Reglero, A Ramírez de Molina
Publication Date: 2019-08-24

Variant appearance in text: rs328
PubMed Link: 31450563
Variant Present in the following documents:
  • nutrients-11-02001-s001.pdf
View BVdb publication page



In search of causal pathways in diabetes: a study using proteomics and genotyping data from a cross-sectional study.

Diabetologia
K Beijer, C Nowak, J Sundström, J Ärnlöv, T Fall, L Lind
Publication Date: 2019-11

Variant appearance in text: rs328
PubMed Link: 31446444
Variant Present in the following documents:
  • 125_2019_Article_4960.pdf
  • aaaaaMain text
View BVdb publication page



Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.

Molecular Genetics & Genomic Medicine
Y Yasukochi, J Sakuma, I Takeuchi, K Kato, M Oguri, T Fujimaki, H Horibe, Y Yamada
Publication Date: 2019-09

Variant appearance in text: rs328
PubMed Link: 31402603
Variant Present in the following documents:
  • MGG3-7-e925-s001.pdf
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs328
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Genome-Wide Association Study of Metabolic Syndrome Reveals Primary Genetic Variants at CETP Locus in Indians.

Biomolecules
G Prasad, K Bandesh, AK Giri, Y Kauser, P Chanda, V Parekatt, S Mathur, SV Madhu, P Venkatesh, A Bhansali, RK Marwaha, A Basu, N Tandon, D Bharadwaj,
Publication Date: 2019-07-30

Variant appearance in text: rs328
PubMed Link: 31366177
Variant Present in the following documents:
  • biomolecules-09-00321-s001.pdf
View BVdb publication page



Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
Publication Date: 2019-06-21

Variant appearance in text: rs328
PubMed Link: 31227787
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phase II study of ENMD-2076 in advanced soft tissue sarcoma (STS).

Scientific Reports
Z Veitch, A Zer, H Loong, S Salah, M Masood, A Gupta, PA Bradbury, D Hogg, A Wong, R Kandel, GS Charames, AR Abdul Razak
Publication Date: 2019-05-14

Variant appearance in text: N/A
PubMed Link: 31089155
Variant Present in the following documents:
View BVdb publication page



Structure of lipoprotein lipase in complex with GPIHBP1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
R Arora, AV Nimonkar, D Baird, C Wang, CH Chiu, PA Horton, S Hanrahan, R Cubbon, S Weldon, WR Tschantz, S Mueller, R Brunner, P Lehr, P Meier, J Ottl, A Voznesensky, P Pandey, TM Smith, A Stojanovic, A Flyer, TE Benson, MJ Romanowski, JW Trauger
Publication Date: 2019-05-21

Variant appearance in text: N/A
PubMed Link: 31072929
Variant Present in the following documents:
View BVdb publication page



Gene Lifestyle Interactions With Relation to Obesity, Cardiometabolic, and Cardiovascular Traits Among South Asians.

Frontiers In Endocrinology
S Ahmad, SS Fatima, G Rukh, CE Smith
Publication Date: 2019

Variant appearance in text: rs328
PubMed Link: 31024458
Variant Present in the following documents:
  • Main text
View BVdb publication page



The stem cell-specific intermediate filament nestin missense variation p.A1199P is associated with pancreatic cancer.

Oncology Letters
Y Matsuda, M Tanaka, M Sawabe, S Mori, M Muramatsu, MN Mieno, T Ishiwata, T Arai
Publication Date: 2019-05

Variant appearance in text: rs328
PubMed Link: 30988821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association of LPL rs1121923 and rs258 with plasma TG and VLDL levels.

Scientific Reports
SA Al-Bustan, A Al-Serri, MA Alnaqeeb, BG Annice, O Mojiminiyi
Publication Date: 2019-04-03

Variant appearance in text: rs328
PubMed Link: 30944368
Variant Present in the following documents:
  • Main text
View BVdb publication page



A 3-SNP gene risk score and a metabolic risk score both predict hypertriglyceridemia and cardiovascular disease risk.

Journal Of Clinical Lipidology
R Verbeek, F Oldoni, RP Surendran, AH Zwinderman, KT Khaw, ESG Stroes, NJ Wareham, SM Boekholdt, GM Dallinga-Thie
Publication Date: 2019

Variant appearance in text: rs328
PubMed Link: 30910668
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

American Journal Of Human Genetics
E Bahrami-Samani, Y Xing
Publication Date: 2019-03-07

Variant appearance in text: rs328
PubMed Link: 30827501
Variant Present in the following documents:
  • mmc7.xlsx
View BVdb publication page



The Impact of Aerobic Exercise and Badminton on HDL Cholesterol Levels in Adult Taiwanese.

Nutrients
Y Nassef, KJ Lee, ON Nfor, DM Tantoh, MC Chou, YP Liaw
Publication Date: 2019-02-28

Variant appearance in text: rs328
PubMed Link: 30823398
Variant Present in the following documents:
  • Main text
View BVdb publication page



Logic Regression Analysis of Gene Polymorphisms and HDL Levels in a Nationally Representative Sample of Iranian Adolescents: The CASPIAN-III Study.

International Journal Of Endocrinology And Metabolism
M Moghadasi, R Kelishadi, HR Marateb, S Haghjooy Javanmard, M Mansourian, R Heshmat, M Esmaeil Motlagh
Publication Date: 2017-07

Variant appearance in text: rs328
PubMed Link: 30805016
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: rs328
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



Obesity genetics and cardiometabolic health: Potential for risk prediction.

Diabetes, Obesity & Metabolism
DK Sanghera, C Bejar, S Sharma, R Gupta, PR Blackett
Publication Date: 2019-05

Variant appearance in text: rs328
PubMed Link: 30667137
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Guide to Applying the Sex-Gender Perspective to Nutritional Genomics.

Nutrients
D Corella, O Coltell, O Portolés, M Sotos-Prieto, R Fernández-Carrión, JB Ramirez-Sabio, V Zanón-Moreno, J Mattei, JV Sorlí, JM Ordovas
Publication Date: 2018-12-20

Variant appearance in text: rs328
PubMed Link: 30577445
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Determinants of Dyslipidemia in African-Based Populations: A Systematic Review.

Omics : A Journal Of Integrative Biology
JJ Noubiap, EPM Mato, M Guewo-Fokeng, AD Kaze, H Boulenouar, A Wonkam
Publication Date: 2018-12

Variant appearance in text: rs328
PubMed Link: 30571611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Ebiomedicine
JL Jin, D Sun, YX Cao, HW Zhang, YL Guo, NQ Wu, CG Zhu, Y Gao, QT Dong, G Liu, Q Dong, JJ Li
Publication Date: 2018-12

Variant appearance in text: LPL: 1421C>G; rs328
PubMed Link: 30420299
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Candidate gene polymorphisms related to lipid metabolism in Asian Indians living in Durban, South Africa.

The Indian Journal Of Medical Research
T Maistry, M Gordon, B Sartorius, DP Naidoo
Publication Date: 2018-08

Variant appearance in text: rs328
PubMed Link: 30381540
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants at the APOE /C1/C2/C4 Locus Modulate Cholesterol Efflux Capacity Independently of High-Density Lipoprotein Cholesterol.

Journal Of The American Heart Association
C Low-Kam, D Rhainds, KS Lo, A Barhdadi, M Boulé, S Alem, V Pedneault-Gagnon, E Rhéaume, MP Dubé, D Busseuil, RA Hegele, G Lettre, JC Tardif
Publication Date: 2018-08-21

Variant appearance in text: rs328
PubMed Link: 30369316
Variant Present in the following documents:
  • Main text
  • JAH3-7-e009545-s001.pdf
View BVdb publication page



Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine
Y Yamada, K Kato, M Oguri, H Horibe, T Fujimaki, Y Yasukochi, I Takeuchi, J Sakuma
Publication Date: 2019-01

Variant appearance in text: LPL: S474*; rs328
PubMed Link: 30365130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.

F1000Research
M Palacio Rojas, C Prieto, V Bermúdez, C Garicano, T Núñez Nava, MS Martínez, J Salazar, E Rojas, A Pérez, P Marca Vicuña, N González Martínez, S Maldonado Parra, K Hoedebecke, R D'Addosio, C Cano, J Rojas
Publication Date: 2017

Variant appearance in text: rs328
PubMed Link: 30345000
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic and Phenomic Research in the 21st Century.

Trends In Genetics : Tig
S Hebbring
Publication Date: 2019-01

Variant appearance in text: rs328
PubMed Link: 30342790
Variant Present in the following documents:
  • Main text
  • nihms-1509924.pdf
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
LA Lotta, ID Stewart, SJ Sharp, FR Day, S Burgess, J Luan, N Bowker, L Cai, C Li, LBL Wittemans, ND Kerrison, KT Khaw, MI McCarthy, S O'Rahilly, RA Scott, DB Savage, JRB Perry, C Langenberg, NJ Wareham
Publication Date: 2018-10-01

Variant appearance in text: rs328
PubMed Link: 30326043
Variant Present in the following documents:
  • Main text
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



Nutrigenetic Contributions to Dyslipidemia: A Focus on Physiologically Relevant Pathways of Lipid and Lipoprotein Metabolism.

Nutrients
BA Hannon, NA Khan, M Teran-Garcia
Publication Date: 2018-10-02

Variant appearance in text: rs328
PubMed Link: 30279335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

Nature Genetics
D Klarin, SM Damrauer, K Cho, YV Sun, TM Teslovich, J Honerlaw, DR Gagnon, SL DuVall, J Li, GM Peloso, M Chaffin, AM Small, J Huang, H Tang, JA Lynch, YL Ho, DJ Liu, CA Emdin, AH Li, JE Huffman, JS Lee, P Natarajan, R Chowdhury, D Saleheen, M Vujkovic, A Baras, S Pyarajan, E Di Angelantonio, BM Neale, A Naheed, AV Khera, J Danesh, KM Chang, G Abecasis, C Willer, FE Dewey, DJ Carey, , , , , J Concato, JM Gaziano, CJ O'Donnell, PS Tsao, S Kathiresan, DJ Rader, PWF Wilson, TL Assimes
Publication Date: 2018-11

Variant appearance in text: N/A
PubMed Link: 30275531
Variant Present in the following documents:
View BVdb publication page



Lipoprotein lipase gene polymorphisms as risk factors for stroke: a computational and meta-analysis.

Iranian Journal Of Basic Medical Sciences
M Nejati, MA Atlasi, M Karimian, H Nikzad, A Azami Tameh
Publication Date: 2018-07

Variant appearance in text: rs328
PubMed Link: 30140409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size.

Genes
YA Barbitoff, EA Serebryakova, YA Nasykhova, AV Predeus, DE Polev, AR Shuvalova, EV Vasiliev, SP Urazov, AM Sarana, SG Scherbak, DV Gladyshev, MS Pokrovskaya, OV Sivakova, AN Meshkov, OM Drapkina, OS Glotov, AS Glotov
Publication Date: 2018-08-17

Variant appearance in text: rs328
PubMed Link: 30126146
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.

Computational And Structural Biotechnology Journal
HR Marateb, MR Mohebian, SH Javanmard, AA Tavallaei, MH Tajadini, M Heidari-Beni, MA Mañanas, ME Motlagh, R Heshmat, M Mansourian, R Kelishadi
Publication Date: 2018

Variant appearance in text: rs328
PubMed Link: 30026888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.

Journal Of The American College Of Cardiology
A Saeed, EV Feofanova, B Yu, W Sun, SS Virani, V Nambi, J Coresh, CS Guild, E Boerwinkle, CM Ballantyne, RC Hoogeveen
Publication Date: 2018-07-10

Variant appearance in text: rs328
PubMed Link: 29976289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotype and genotype predictors of BMI variability among European adults.

Nutrition & Diabetes
L Goni, M García-Granero, FI Milagro, M Cuervo, JA Martínez
Publication Date: 2018-05-24

Variant appearance in text: rs328
PubMed Link: 29795275
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of apolipoprotein E gene polymorphisms with blood lipids and their interaction with dietary factors.

Lipids In Health And Disease
IM Shatwan, KH Winther, B Ellahi, P Elwood, Y Ben-Shlomo, I Givens, MP Rayman, JA Lovegrove, KS Vimaleswaran
Publication Date: 2018-04-30

Variant appearance in text: rs328
PubMed Link: 29712557
Variant Present in the following documents:
  • 12944_2018_744_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Nature Communications
CA Emdin, AV Khera, M Chaffin, D Klarin, P Natarajan, K Aragam, M Haas, A Bick, SM Zekavat, A Nomura, D Ardissino, JG Wilson, H Schunkert, R McPherson, H Watkins, R Elosua, MJ Bown, NJ Samani, U Baber, J Erdmann, N Gupta, J Danesh, D Chasman, P Ridker, J Denny, L Bastarache, JH Lichtman, G D'Onofrio, J Mattera, JA Spertus, WH Sheu, KD Taylor, BM Psaty, SS Rich, W Post, JI Rotter, YI Chen, H Krumholz, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2018-04-24

Variant appearance in text: rs328
PubMed Link: 29691411
Variant Present in the following documents:
  • 41467_2018_3911_MOESM1_ESM.pdf
  • 41467_2018_3911_MOESM4_ESM.xls
View BVdb publication page



Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

Nature Communications
C DeBoever, Y Tanigawa, ME Lindholm, G McInnes, A Lavertu, E Ingelsson, C Chang, EA Ashley, CD Bustamante, MJ Daly, MA Rivas
Publication Date: 2018-04-24

Variant appearance in text: rs328
PubMed Link: 29691392
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Nature Genetics
A Mahajan, J Wessel, SM Willems, W Zhao, NR Robertson, AY Chu, W Gan, H Kitajima, D Taliun, NW Rayner, X Guo, Y Lu, M Li, RA Jensen, Y Hu, S Huo, KK Lohman, W Zhang, JP Cook, BP Prins, J Flannick, N Grarup, VV Trubetskoy, J Kravic, YJ Kim, DV Rybin, H Yaghootkar, M Müller-Nurasyid, K Meidtner, R Li-Gao, TV Varga, J Marten, J Li, AV Smith, P An, S Ligthart, S Gustafsson, G Malerba, A Demirkan, JF Tajes, V Steinthorsdottir, M Wuttke, C Lecoeur, M Preuss, LF Bielak, M Graff, HM Highland, AE Justice, DJ Liu, E Marouli, GM Peloso, HR Warren, , , , S Afaq, S Afzal, E Ahlqvist, P Almgren, N Amin, LB Bang, AG Bertoni, C Bombieri, J Bork-Jensen, I Brandslund, JA Brody, NP Burtt, M Canouil, YI Chen, YS Cho, C Christensen, SV Eastwood, KU Eckardt, K Fischer, G Gambaro, V Giedraitis, ML Grove, HG de Haan, S Hackinger, Y Hai, S Han, A Tybjærg-Hansen, MF Hivert, B Isomaa, S Jäger, ME Jørgensen, T Jørgensen, A Käräjämäki, BJ Kim, SS Kim, HA Koistinen, P Kovacs, J Kriebel, F Kronenberg, K Läll, LA Lange, JJ Lee, B Lehne, H Li, KH Lin, A Linneberg, CT Liu, J Liu, M Loh, R Mägi, V Mamakou, R McKean-Cowdin, G Nadkarni, M Neville, SF Nielsen, I Ntalla, PA Peyser, W Rathmann, K Rice, SS Rich, L Rode, O Rolandsson, S Schönherr, E Selvin, KS Small, A Stančáková, P Surendran, KD Taylor, TM Teslovich, B Thorand, G Thorleifsson, A Tin, A Tönjes, A Varbo, DR Witte, AR Wood, P Yajnik, J Yao, L Yengo, R Young, P Amouyel, H Boeing, E Boerwinkle, EP Bottinger, R Chowdhury, FS Collins, G Dedoussis, A Dehghan, P Deloukas, MM Ferrario, J Ferrières, JC Florez, P Frossard, V Gudnason, TB Harris, SR Heckbert, JMM Howson, M Ingelsson, S Kathiresan, F Kee, J Kuusisto, C Langenberg, LJ Launer, CM Lindgren, S Männistö, T Meitinger, O Melander, KL Mohlke, M Moitry, AD Morris, AD Murray, R de Mutsert, M Orho-Melander, KR Owen, M Perola, A Peters, MA Province, A Rasheed, PM Ridker, F Rivadineira, FR Rosendaal, AH Rosengren, V Salomaa, WH Sheu, R Sladek, BH Smith, K Strauch, AG Uitterlinden, R Varma, CJ Willer, M Blüher, AS Butterworth, JC Chambers, DI Chasman, J Danesh, C van Duijn, J Dupuis, OH Franco, PW Franks, P Froguel, H Grallert, L Groop, BG Han, T Hansen, AT Hattersley, C Hayward, E Ingelsson, SLR Kardia, F Karpe, JS Kooner, A Köttgen, K Kuulasmaa, M Laakso, X Lin, L Lind, Y Liu, RJF Loos, J Marchini, A Metspalu, D Mook-Kanamori, BG Nordestgaard, CNA Palmer, JS Pankow, O Pedersen, BM Psaty, R Rauramaa, N Sattar, MB Schulze, N Soranzo, TD Spector, K Stefansson, M Stumvoll, U Thorsteinsdottir, T Tuomi, J Tuomilehto, NJ Wareham, JG Wilson, E Zeggini, RA Scott, I Barroso, TM Frayling, MO Goodarzi, JB Meigs, M Boehnke, D Saleheen, AP Morris, JI Rotter, MI McCarthy
Publication Date: 2018-04

Variant appearance in text: rs328
PubMed Link: 29632382
Variant Present in the following documents:
  • Main text
  • NIHMS938867-supplement-1.pdf
  • NIHMS938867-supplement-2.xlsx
View BVdb publication page



Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.

Plos Genetics
CN Spracklen, J Shi, S Vadlamudi, Y Wu, M Zou, CK Raulerson, JP Davis, M Zeynalzadeh, K Jackson, W Yuan, H Wang, W Shou, Y Wang, J Luo, LA Lange, EM Lange, BM Popkin, P Gordon-Larsen, S Du, W Huang, KL Mohlke
Publication Date: 2018-04

Variant appearance in text: rs328
PubMed Link: 29621232
Variant Present in the following documents:
  • pgen.1007275.s021.xlsx
View BVdb publication page



From SNPs to pathways: Biological interpretation of type 2 diabetes (T2DM) genome wide association study (GWAS) results.

Plos One
E Cirillo, M Kutmon, M Gonzalez Hernandez, T Hooimeijer, ME Adriaens, LMT Eijssen, LD Parnell, SL Coort, CT Evelo
Publication Date: 2018

Variant appearance in text: rs328
PubMed Link: 29617380
Variant Present in the following documents:
  • Main text
  • pone.0193515.s007.xlsx
  • pone.0193515.s008.xlsx
View BVdb publication page



Type 2 diabetes mellitus: distribution of genetic markers in Kazakh population.

Clinical Interventions In Aging
N Sikhayeva, Y Talzhanov, A Iskakova, J Dzharmukhanov, R Nugmanova, E Zholdybaeva, E Ramanculov
Publication Date: 2018

Variant appearance in text: rs328
PubMed Link: 29551892
Variant Present in the following documents:
  • Main text
  • get_supplementary_file.php?f=156044.pdf
View BVdb publication page



Associations between LPL gene polymorphisms and coronary artery disease: evidence based on an updated and cumulative meta-analysis.

Bioscience Reports
WQ Ma, Y Wang, XQ Han, Y Zhu, NF Liu
Publication Date: 2018-02-19

Variant appearance in text: rs328
PubMed Link: 29459423
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels.

Plos One
SA Al-Bustan, A Al-Serri, BG Annice, MA Alnaqeeb, WY Al-Kandari, M Dashti
Publication Date: 2018

Variant appearance in text: rs328
PubMed Link: 29438437
Variant Present in the following documents:
  • Main text
  • pone.0192617.s001.pdf
  • pone.0192617.s002.pdf
View BVdb publication page



Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.

Peerj
A Andaleon, LS Mogil, HE Wheeler
Publication Date: 2018

Variant appearance in text: rs328
PubMed Link: 29404214
Variant Present in the following documents:
  • peerj-06-4314-s001.xlsx
View BVdb publication page



Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.

Upsala Journal Of Medical Sciences
PG Kamble, S Gustafsson, MJ Pereira, P Lundkvist, N Cook, L Lind, PW Franks, T Fall, JW Eriksson, E Ingelsson
Publication Date: 2017-11

Variant appearance in text: rs328
PubMed Link: 29303622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.

Yonsei Medical Journal
CJ Lee, CY Oum, Y Lee, S Park, SM Kang, D Choi, Y Jang, JH Lee, SH Lee
Publication Date: 2018-01

Variant appearance in text: LPL: S474X; rs328
PubMed Link: 29214790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoprotein Lipase Expression in Chronic Lymphocytic Leukemia: New Insights into Leukemic Progression.

Molecules (Basel, Switzerland)
D Prieto, P Oppezzo
Publication Date: 2017-12-05

Variant appearance in text: rs328
PubMed Link: 29206143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein E gene polymorphism modifies fasting total cholesterol concentrations in response to replacement of dietary saturated with monounsaturated fatty acids in adults at moderate cardiovascular disease risk.

Lipids In Health And Disease
IM Shatwan, M Weech, KG Jackson, JA Lovegrove, KS Vimaleswaran
Publication Date: 2017-11-23

Variant appearance in text: rs328
PubMed Link: 29169396
Variant Present in the following documents:
  • 12944_2017_606_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Advancing stroke genomic research in the age of Trans-Omics big data science: Emerging priorities and opportunities.

Journal Of The Neurological Sciences
M Owolabi, E Peprah, H Xu, R Akinyemi, HK Tiwari, MR Irvin, KW Wahab, DK Arnett, B Ovbiagele
Publication Date: 2017-11-15

Variant appearance in text: rs328
PubMed Link: 29111012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics
JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke
Publication Date: 2017-10

Variant appearance in text: rs328
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Exome-wide association study of plasma lipids in >300,000 individuals.

Nature Genetics
DJ Liu, GM Peloso, H Yu, AS Butterworth, X Wang, A Mahajan, D Saleheen, C Emdin, D Alam, AC Alves, P Amouyel, E Di Angelantonio, D Arveiler, TL Assimes, PL Auer, U Baber, CM Ballantyne, LE Bang, M Benn, JC Bis, M Boehnke, E Boerwinkle, J Bork-Jensen, EP Bottinger, I Brandslund, M Brown, F Busonero, MJ Caulfield, JC Chambers, DI Chasman, YE Chen, YI Chen, R Chowdhury, C Christensen, AY Chu, JM Connell, F Cucca, LA Cupples, SM Damrauer, G Davies, IJ Deary, G Dedoussis, JC Denny, A Dominiczak, MP Dubé, T Ebeling, G Eiriksdottir, T Esko, AE Farmaki, MF Feitosa, M Ferrario, J Ferrieres, I Ford, M Fornage, PW Franks, TM Frayling, R Frikke-Schmidt, LG Fritsche, P Frossard, V Fuster, SK Ganesh, W Gao, ME Garcia, C Gieger, F Giulianini, MO Goodarzi, H Grallert, N Grarup, L Groop, ML Grove, V Gudnason, T Hansen, TB Harris, C Hayward, JN Hirschhorn, OL Holmen, J Huffman, Y Huo, K Hveem, S Jabeen, AU Jackson, J Jakobsdottir, MR Jarvelin, GB Jensen, ME Jørgensen, JW Jukema, JM Justesen, PR Kamstrup, S Kanoni, F Karpe, F Kee, AV Khera, D Klarin, HA Koistinen, JS Kooner, C Kooperberg, K Kuulasmaa, J Kuusisto, M Laakso, T Lakka, C Langenberg, A Langsted, LJ Launer, T Lauritzen, DCM Liewald, LA Lin, A Linneberg, RJF Loos, Y Lu, X Lu, R Mägi, A Malarstig, A Manichaikul, AK Manning, P Mäntyselkä, E Marouli, NGD Masca, A Maschio, JB Meigs, O Melander, A Metspalu, AP Morris, AC Morrison, A Mulas, M Müller-Nurasyid, PB Munroe, MJ Neville, JB Nielsen, SF Nielsen, BG Nordestgaard, JM Ordovas, R Mehran, CJ O'Donnell, M Orho-Melander, CM Molony, P Muntendam, S Padmanabhan, CNA Palmer, D Pasko, AP Patel, O Pedersen, M Perola, A Peters, C Pisinger, G Pistis, O Polasek, N Poulter, BM Psaty, DJ Rader, A Rasheed, R Rauramaa, DF Reilly, AP Reiner, F Renström, SS Rich, PM Ridker, JD Rioux, NR Robertson, DM Roden, JI Rotter, I Rudan, V Salomaa, NJ Samani, S Sanna, N Sattar, EM Schmidt, RA Scott, P Sever, RS Sevilla, CM Shaffer, X Sim, S Sivapalaratnam, KS Small, AV Smith, BH Smith, S Somayajula, L Southam, TD Spector, EK Speliotes, JM Starr, KE Stirrups, N Stitziel, K Strauch, HM Stringham, P Surendran, H Tada, AR Tall, H Tang, JC Tardif, KD Taylor, S Trompet, PS Tsao, J Tuomilehto, A Tybjaerg-Hansen, NR van Zuydam, A Varbo, TV Varga, J Virtamo, M Waldenberger, N Wang, NJ Wareham, HR Warren, PE Weeke, J Weinstock, J Wessel, JG Wilson, PWF Wilson, M Xu, H Yaghootkar, R Young, E Zeggini, H Zhang, NS Zheng, W Zhang, Y Zhang, W Zhou, Y Zhou, M Zoledziewska, , , , , , JMM Howson, J Danesh, MI McCarthy, CA Cowan, G Abecasis, P Deloukas, K Musunuru, CJ Willer, S Kathiresan
Publication Date: 2017-12

Variant appearance in text: LPL: Ser474Ter; rs328
PubMed Link: 29083408
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: rs328
PubMed Link: 29083407
Variant Present in the following documents:
  • Main text
  • NIHMS909133-supplement-1.docx
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Population-based Study of Risk Polymorphisms Associated with Vascular Disorders and Dementia.

Current Genomics
Ó Teijido, JC Carril, R Cacabelos
Publication Date: 2017-10

Variant appearance in text: LPL: S474X; rs328
PubMed Link: 29081698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Risk Factors in Cerebrovascular Disorders and Cognitive Deterioration.

Current Genomics
JC Carril, R Cacabelos
Publication Date: 2017-10

Variant appearance in text: LPL: 1421C>G; rs328
PubMed Link: 29081697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex Differences in Blood HDL-c, the Total Cholesterol/HDL-c Ratio, and Palmitoleic Acid are Not Associated with Variants in Common Candidate Genes.

Lipids
SL Klingel, K Roke, B Hidalgo, S Aslibekyan, RJ Straka, P An, MA Province, PN Hopkins, DK Arnett, JM Ordovas, CQ Lai, DM Mutch
Publication Date: 2017-12

Variant appearance in text: rs328
PubMed Link: 29080057
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A cross-sectional study in Japanese male workers.

Plos One
Y Kubo, T Imaizumi, M Ando, M Nakatochi, Y Yasuda, H Honda, Y Kuwatsuka, S Kato, K Kikuchi, T Kondo, M Iwata, T Nakashima, H Yasui, H Takamatsu, H Okajima, Y Yoshida, S Maruyama
Publication Date: 2017

Variant appearance in text: rs328
PubMed Link: 29016630
Variant Present in the following documents:
  • pone.0185476.s001.docx
  • pone.0185476.s002.docx
View BVdb publication page



Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

Plos One
LC Pilling, JL Atkins, MO Duff, RN Beaumont, SE Jones, J Tyrrell, CL Kuo, KS Ruth, MA Tuke, H Yaghootkar, AR Wood, A Murray, MN Weedon, LW Harries, GA Kuchel, L Ferrucci, TM Frayling, D Melzer
Publication Date: 2017

Variant appearance in text: rs328
PubMed Link: 28957414
Variant Present in the following documents:
  • pone.0185083.s004.xlsx
View BVdb publication page



A high-throughput sequence analysis of Japanese patients revealed 11 candidate genes associated with type 1 autoimmune pancreatitis susceptibility.

Biochemistry And Biophysics Reports
S Fujibayashi, J Sasajima, T Goto, H Tanaka, H Kawabata, T Fujii, K Nakamura, A Chiba, N Yanagawa, K Moriichi, M Fujiya, Y Kohgo
Publication Date: 2016-07

Variant appearance in text: rs328
PubMed Link: 28955865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One
D Dai, F Wen, S Zhou, Z Su, G Liu, M Wang, J Zhou, F He
Publication Date: 2017

Variant appearance in text: rs328
PubMed Link: 28953935
Variant Present in the following documents:
  • pone.0185396.s002.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000311322.8 c.1421C>G p.Ser474* stop_gained 9/10 -
NM_000237.3 c.1421C>G p.Ser474* stop_gained 9/10 -