LDLR c.292G>C ;(p.G98R)

Variant ID: 19-11213441-G-C

NM_000527.4(LDLR):c.292G>C;(p.G98R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Characterization of familial hypercholesterolemia in Taiwanese ischemic stroke patients.

Aging
Tung, Hsin H; Lin, Hsueh-Ju HJ; Chen, Po-Lin PL; Lu, Tsai-Jung TJ; Jhan, Pei-Pei PP; Chen, Jun-Peng JP; Chen, Yi-Ming YM; Wu, Chen-Chin CC; Lin, Yung-Yang YY; Hsiao, Tzu-Hung TH
Publication Date: 2021-07-27

Variant appearance in text: rs750474121
PubMed Link: 34314377
Variant Present in the following documents:
  • Main text
  • aging-13-203320.pdf
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: rs750474121
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
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: rs750474121
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page