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LDLR c.2479G>C ;(p.V827L)
Variant ID: 19-11240278-G-C
NM_000527.4(
LDLR
):c.2479G>C;(p.V827L)
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:
Disease variants in genomes of 44 centenarians.
Molecular Genetics & Genomic Medicine
Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P
Publication Date: 2014-09
Variant appearance in text: LDLR: V827l
PubMed Link:
25333069
Variant Present in the following documents:
Main text
mgg30002-0438.pdf
View BVdb publication page