KCNH2 c.3173C>A ;(p.A1058E)

Variant ID: 7-150644122-G-T

NM_000238.3(KCNH2):c.3173C>A;(p.A1058E)

This variant was identified in 4 publications

View GRCh38 version.




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: A1058E
PubMed Link: 35243873
Variant Present in the following documents:
  • Main text
View BVdb publication page



H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

International Journal Of Molecular Sciences
Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG
Publication Date: 2021-08-26

Variant appearance in text: Kv11.1: A1058E
PubMed Link: 34502138
Variant Present in the following documents:
  • Main text
  • ijms-22-09235.pdf
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: 3173C>A
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: A1058E
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.pdf
View BVdb publication page