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KCNH2 c.1541G>C ;(p.G514A)
Variant ID: 7-150649529-C-G
NM_000238.3(
KCNH2
):c.1541G>C;(p.G514A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Acta Cardiologica Sinica
Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A
Publication Date: 2019-03
Variant appearance in text: Kv11.1: G514A
PubMed Link:
30930557
Variant Present in the following documents:
Main text
View BVdb publication page
Short QT Syndrome - Review of Diagnosis and Treatment.
Arrhythmia & Electrophysiology Review
Rudic, Boris B; Schimpf, Rainer R; Borggrefe, Martin M
Publication Date: 2014-08
Variant appearance in text: KCNH2: G514A
PubMed Link:
26835070
Variant Present in the following documents:
Main text
View BVdb publication page
Congenital short QT syndrome.
Indian Pacing And Electrophysiology Journal
Crotti, Lia L; Taravelli, Erika E; Girardengo, Giulia G; Schwartz, Peter J PJ
Publication Date: 2010-02-01
Variant appearance in text: KCNH2: G514A
PubMed Link:
20126594
Variant Present in the following documents:
Main text
ipej100086-00.pdf
View BVdb publication page