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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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