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LDLR c.2116A>G ;(p.R706G)
Variant ID: 19-11231174-A-G
NM_000527.4(
LDLR
):c.2116A>G;(p.R706G)
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:
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Plos Genetics
Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H
Publication Date: 2015-02
Variant appearance in text: LDLR: R706G
PubMed Link:
25647241
Variant Present in the following documents:
pgen.1004855.s019.xlsx, sheet 1
View BVdb publication page