LDLR c.1592T>C ;(p.M531T)

Variant ID: 19-11226775-T-C

NM_000527.4(LDLR):c.1592T>C;(p.M531T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs779913921
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: rs779913921
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page