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.




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