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KCNQ1 c.1590+31A>T
Variant ID: 11-2790180-A-T
NM_000218.2(
KCNQ1
):c.1590+31A>T
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:
Cas9 activates the p53 pathway and selects for p53-inactivating mutations.
Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07
Variant appearance in text: KCNQ1: 1590+31A>T; rs184365395
PubMed Link:
32424350
Variant Present in the following documents:
NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page
Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.
Thescientificworldjournal
Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM
Publication Date: 2013
Variant appearance in text: KCNQ1: 1590+31A>T
PubMed Link:
23710137
Variant Present in the following documents:
Main text
TSWJ2013-373454.pdf
View BVdb publication page