Variant ID: 19-11233941-A-G

NM_000527.4(LDLR):c.2232A>G;(p.Arg744Arg)

This variant was identified in 22 publications




Publications:


Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports
M Vacher, T Porter, VL Villemagne, L Milicic, M Peretti, C Fowler, R Martins, S Rainey-Smith, D Ames, CL Masters, CC Rowe, JD Doecke, SM Laws
Publication Date: 2019-11-19

Variant appearance in text: rs5927
PubMed Link: 31745181
Variant Present in the following documents:
  • 41598_2019_53604_MOESM1_ESM.xlsx
  • 41598_2019_53604_MOESM2_ESM.xlsx
View BVdb publication page



Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American Journal Of Human Genetics
M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, PB Au, J Tagoe, M McDonald, D Karlowicz, B Wolf, J Lee, Y Shen, V Okur, L Deng, CA LeDuc, J Wang, A Hanner, RG Mirmira, MH Park, TL Mastracci, WK Chung
Publication Date: 2019-02-07

Variant appearance in text: rs5927
PubMed Link: 30661771
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xlsx
  • mmc3.pdf
View BVdb publication page



SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver
GS Steba, SM Koekkoek, MWT Tanck, JW Vanhommerig, JTM van der Meer, D Kwa, K Brinkman, M Prins, B Berkhout, G Pollakis, R Molenkamp, J Schinkel, WA Paxton,
Publication Date: 2019-03

Variant appearance in text: rs5927
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
Publication Date: 2017-04-24

Variant appearance in text: rs5927
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
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: rs5927
PubMed Link: 26892515
Variant Present in the following documents:
  • mmc1.doc
View BVdb publication page



A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics
S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson
Publication Date: 2015-09

Variant appearance in text: rs5927
PubMed Link: 26327206
Variant Present in the following documents:
  • pgen.1005379.s008.xlsx
  • pgen.1005379.s016.docx
View BVdb publication page



Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)
L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo
Publication Date: 2015-11

Variant appearance in text: rs5927
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Nature Communications
B Bissig-Choisat, L Wang, X Legras, PK Saha, L Chen, P Bell, FP Pankowicz, MC Hill, M Barzi, CK Leyton, HE Leung, RL Kruse, RW Himes, JA Goss, JM Wilson, L Chan, WR Lagor, KD Bissig
Publication Date: 2015-06-17

Variant appearance in text: LDLR: 2232A>G; Arg744Arg
PubMed Link: 26081744
Variant Present in the following documents:
  • ncomms8339-s1.pdf
View BVdb publication page



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
Publication Date: 2014-12

Variant appearance in text: LDLR: Arg744Arg; rs5927
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal
Y Dementieva, TL Green, DA Primerano, L Wei, J Denvir, P Wehner, S Dodson, MR Flood, BA Pollock, M Huff, C Hill, R Kreisberg, A Francis, K Morrison, H Blackwood, M Davis, HM Lee, S Warren,
Publication Date: 2012

Variant appearance in text: LDLR: R744R; rs5927
PubMed Link: 25134189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam
Publication Date: 2013-12-27

Variant appearance in text: N/A
PubMed Link: 24373485
Variant Present in the following documents:
View BVdb publication page



Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Plos One
C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson
Publication Date: 2013

Variant appearance in text: rs5927
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.pdf
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: rs5927
PubMed Link: 23535506
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI.

Atherosclerosis
BJ Peters, H Pett, OH Klungel, BH Stricker, BM Psaty, NL Glazer, KL Wiggins, JC Bis, A de Boer, AH Maitland-van der Zee
Publication Date: 2011-08

Variant appearance in text: rs5927
PubMed Link: 21741043
Variant Present in the following documents:
  • NIHMS310676-supplement-01.doc
View BVdb publication page



Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research
K Srivastava, A Srivastava, KL Sharma, B Mittal
Publication Date: 2011

Variant appearance in text: rs5927
PubMed Link: 21708280
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics
A Al-Khateeb, MK Zahri, MS Mohamed, TH Sasongko, S Ibrahim, Z Yusof, BA Zilfalil
Publication Date: 2011-03-19

Variant appearance in text: LDLR: 2232A>G; Arg744Arg; rs5927
PubMed Link: 21418584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

Journal Of Lipid Research
I Miljkovic, LM Yerges-Armstrong, LH Kuller, AL Kuipers, X Wang, CM Kammerer, CS Nestlerode, CH Bunker, AL Patrick, VW Wheeler, RW Evans, JM Zmuda
Publication Date: 2010-07

Variant appearance in text: rs5927
PubMed Link: 20308432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.

European Journal Of Epidemiology
G Andreotti, I Menashe, J Chen, SC Chang, A Rashid, YT Gao, TQ Han, LC Sakoda, S Chanock, PS Rosenberg, AW Hsing
Publication Date: 2009

Variant appearance in text: rs5927
PubMed Link: 19888660
Variant Present in the following documents:
  • NIHMS188716-supplement-supplement_1.pdf
View BVdb publication page



Candidate gene polymorphisms for ischemic stroke.

Stroke
M Matarin, WM Brown, H Dena, A Britton, FW De Vrieze, TG Brott, RD Brown, BB Worrall, LD Case, SJ Chanock, EJ Metter, L Ferruci, D Gamble, JA Hardy, SS Rich, A Singleton, JF Meschia
Publication Date: 2009-11

Variant appearance in text: rs5927
PubMed Link: 19729601
Variant Present in the following documents:
  • NIHMS145584-supplement-1.pdf
View BVdb publication page



Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke.

Pharmacogenetics And Genomics
LA Hindorff, RN Lemaitre, NL Smith, JC Bis, KD Marciante, KM Rice, T Lumley, DA Enquobahrie, G Li, SR Heckbert, BM Psaty
Publication Date: 2008-08

Variant appearance in text: rs5927
PubMed Link: 18622260
Variant Present in the following documents:
  • NIHMS95678-supplement-2.doc
View BVdb publication page



Genome-wide survey of allele-specific splicing in humans.

Bmc Genomics
V Nembaware, B Lupindo, K Schouest, C Spillane, K Scheffler, C Seoighe
Publication Date: 2008-06-02

Variant appearance in text: rs5927
PubMed Link: 18518984
Variant Present in the following documents:
  • 1471-2164-9-265-S4.xls
View BVdb publication page



Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
G Andreotti, J Chen, YT Gao, A Rashid, BE Chen, P Rosenberg, LC Sakoda, J Deng, MC Shen, BS Wang, TQ Han, BH Zhang, M Yeager, R Welch, S Chanock, JF Fraumeni, AW Hsing
Publication Date: 2008-03

Variant appearance in text: rs5927
PubMed Link: 18296645
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2487A>G p.Arg829= synonymous_variant 15/18 -
ENST00000455727.2 c.1728A>G p.Arg576= synonymous_variant 13/16 -
ENST00000535915.1 c.2109A>G p.Arg703= synonymous_variant 14/17 -
ENST00000545707.1 c.1698A>G p.Arg566= synonymous_variant 13/16 -
ENST00000557933.1 c.2232A>G p.Arg744= synonymous_variant 15/18 -
ENST00000558013.1 c.2232A>G p.Arg744= synonymous_variant 15/18 -
ENST00000558518.1 c.2232A>G p.Arg744= synonymous_variant 15/18 -
NM_000527.5 c.2232A>G p.Arg744= synonymous_variant 15/18 -
NM_001195798.2 c.2232A>G p.Arg744= synonymous_variant 15/18 -
NM_001195799.2 c.2109A>G p.Arg703= synonymous_variant 14/17 -
NM_001195800.2 c.1728A>G p.Arg576= synonymous_variant 13/16 -
NM_001195803.2 c.1698A>G p.Arg566= synonymous_variant 13/16 -