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KCNH2 c.1577_1578delinsTG ;(p.T526M)
Variant ID: 7-150648903-AG-CA
NM_000238.3(
KCNH2
):c.1577_1578delinsTG;(p.T526M)
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:
Lipid regulation of hERG1 channel function.
Nature Communications
Miranda, Williams E WE; Guo, Jiqing J; Mesa-Galloso, Haydee H; Corradi, Valentina V; Lees-Miller, James P JP; Tieleman, D Peter DP; Duff, Henry J HJ; Noskov, Sergei Yu SY
Publication Date: 2021-03-03
Variant appearance in text: HERG: T526M
PubMed Link:
33658490
Variant Present in the following documents:
41467_2021_21681_MOESM2_ESM.pdf
41467_2021_Article_21681.pdf
View BVdb publication page
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Journal Of Cardiovascular Translational Research
Tan, Boon Yew BY; Jain, Rahul R; den Haan, A Dénise AD; Chen, Yan Y; Dalal, Darshan D; Tandri, Harikrishna H; Amat-Alarcon, Nuria N; Daly, Amy A; Tichnell, Crystal C; James, Cynthia C; Calkins, Hugh H; Judge, Daniel P DP
Publication Date: 2010-12
Variant appearance in text: KCNH2: T526M
PubMed Link:
20857253
Variant Present in the following documents:
Main text
View BVdb publication page