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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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