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KCNH2 c.526C>G ;(p.R176G)
Variant ID: 7-150655537-G-C
NM_000238.3(
KCNH2
):c.526C>G;(p.R176G)
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: rs36210422
PubMed Link:
37324772
Variant Present in the following documents:
JOA3-39-430.pdf
View BVdb publication page
In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12
Variant appearance in text: rs36210422
PubMed Link:
19214780
Variant Present in the following documents:
Main text
View BVdb publication page