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KCNH2 c.1094A>G ;(p.E365G)
Variant ID: 7-150654413-T-C
NM_000238.3(
KCNH2
):c.1094A>G;(p.E365G)
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: 1094A>G
PubMed Link:
37324772
Variant Present in the following documents:
Main text
View BVdb publication page
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25
Variant appearance in text: KCNH2: 1094A>G; E365G
PubMed Link:
23098067
Variant Present in the following documents:
Main text
View BVdb publication page