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