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LDLR c.2041T>A ;(p.C681S)
Variant ID: 19-11231099-T-A
NM_000527.4(
LDLR
):c.2041T>A;(p.C681S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: LDLR: C681S
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
European Journal Of Human Genetics : Ejhg
Snozek, Christine L H CL; Lagerstedt, Susan A SA; Khoo, Teck K TK; Rubenfire, Melvyn M; Isley, William L WL; Train, Laura J LJ; Baudhuin, Linnea M LM
Publication Date: 2009-01
Variant appearance in text: LDLR: Cys681Ser
PubMed Link:
18648394
Variant Present in the following documents:
Main text
View BVdb publication page