KCNH2 c.1883G>A ;(p.G628D)

Variant ID: 7-150648598-C-T

NM_000238.3(KCNH2):c.1883G>A;(p.G628D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06

Variant appearance in text: KCNH2: 1883G>A
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)
Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z
Publication Date: 2017-12

Variant appearance in text: KCNH2: G628D
PubMed Link: 28316956
Variant Present in the following documents:
  • Main text
  • 40709_2017_Article_63.pdf
View BVdb publication page