LDLR c.2037T>C ;(p.Y679=)

Variant ID: 19-11231095-T-C

NM_000527.4(LDLR):c.2037T>C;(p.Y679=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Genes
Abdul Murad, Nor Azian NA; Mohammad Noor, Yusuf Y; Mohd Rani, Zam Zureena ZZ; Sulaiman, Siti Aishah SA; Chow, Yock Ping YP; Abdullah, Noraidatulakma N; Ahmad, Norfazilah N; Ismail, Norliza N; Abdul Jalal, Nazihah N; Kamaruddin, Mohd Arman MA; Saperi, Amalia Afzan AA; Jamal, Rahman R
Publication Date: 2023-03-15

Variant appearance in text: rs760436036
PubMed Link: 36980993
Variant Present in the following documents:
  • Main text
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: rs760436036
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: rs760436036
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page