KCNH2 c.3157G>A ;(p.E1053K)

Variant ID: 7-150644138-C-T

NM_000238.3(KCNH2):c.3157G>A;(p.E1053K)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology
Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT
Publication Date: 2010-08

Variant appearance in text: LQT2: E1053K
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
View BVdb publication page