KCNH2 c.178A>G ;(p.M60V)

Variant ID: 7-150671928-T-C

NM_000238.3(KCNH2):c.178A>G;(p.M60V)

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:

LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.

American Journal Of Physiology. Heart And Circulatory Physiology
Stump, Matthew R MR; Gong, Qiuming Q; Zhou, Zhengfeng Z
Publication Date: 2013-11-01

Variant appearance in text: LQT2: M60V
PubMed Link: 23997099
Variant Present in the following documents:
  • Main text
View BVdb publication page