KCNQ1 c.683+2T>G

Variant ID: 11-2592635-T-G

NM_000218.2(KCNQ1):c.683+2T>G

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:

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Plos One
Shigemizu, Daichi D; Aiba, Takeshi T; Nakagawa, Hidewaki H; Ozaki, Kouichi K; Miya, Fuyuki F; Satake, Wataru W; Toda, Tatsushi T; Miyamoto, Yoshihiro Y; Fujimoto, Akihiro A; Suzuki, Yutaka Y; Kubo, Michiaki M; Tsunoda, Tatsuhiko T; Shimizu, Wataru W; Tanaka, Toshihiro T
Publication Date: 2015

Variant appearance in text: KCNQ1: 683+2T>G
PubMed Link: 26132555
Variant Present in the following documents:
  • Main text
  • pone.0130329.pdf
View BVdb publication page