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LDLR c.95T>C ;(p.F32S)
Variant ID: 19-11210926-T-C
NM_000527.4(
LDLR
):c.95T>C;(p.F32S)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
Circulation. Cardiovascular Genetics
Ahmad, Zahid Z; Adams-Huet, Beverley B; Chen, Chiyuan C; Garg, Abhimanyu A
Publication Date: 2012-12
Variant appearance in text: LDLR: 95T>C
PubMed Link:
23064986
Variant Present in the following documents:
Main text
View BVdb publication page