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KCNH2 c.1099A>T ;(p.T367S)
Variant ID: 7-150654408-T-A
NM_000238.3(
KCNH2
):c.1099A>T;(p.T367S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.
Journal Of The American Heart Association
Chahine, Mohamed M; Fontaine, John M JM; Boutjdir, Mohamed M
Publication Date: 2022-03-15
Variant appearance in text: KCNH2: T367S
PubMed Link:
35243873
Variant Present in the following documents:
Main text
View BVdb publication page
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015
Variant appearance in text: KCNH2: 1099A>T
PubMed Link:
25649125
Variant Present in the following documents:
13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page
Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.
Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13
Variant appearance in text: KCNH2: T367S
PubMed Link:
22947121
Variant Present in the following documents:
Main text
2050-6511-13-6.pdf
View BVdb publication page