LDLR c.2026G>C ;(p.G676R)

Variant ID: 19-11231084-G-C

NM_000527.4(LDLR):c.2026G>C;(p.G676R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LDLR: 2026G>C; Gly676Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: LDLR: 2026G>C; Gly676Arg; rs745753810
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine
Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F
Publication Date: 2022

Variant appearance in text: LDLR: G676R
PubMed Link: 35966514
Variant Present in the following documents:
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs745753810
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: G676R
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: LDLR: 2026G>C; Gly676Arg; rs745753810
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs745753810
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page



Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Journal Of Translational Medicine
Cao, Ye-Xuan YX; Wu, Na-Qiong NQ; Sun, Di D; Liu, Hui-Hui HH; Jin, Jing-Lu JL; Li, Sha S; Guo, Yuan-Lin YL; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ
Publication Date: 2018-12-10

Variant appearance in text: LDLR: 2026G>C; Gly676Arg
PubMed Link: 30526649
Variant Present in the following documents:
  • 12967_2018_1737_MOESM1_ESM.pdf
View BVdb publication page



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

Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03

Variant appearance in text: LDLR: 2026G>C; Gly676Arg
PubMed Link: 26892515
Variant Present in the following documents:
  • main.pdf
View BVdb publication page