KCNH2 c.1546G>A ;(p.G516S)

Variant ID: 7-150649524-C-T

NM_000238.3(KCNH2):c.1546G>A;(p.G516S)

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:

Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

Plos One
Suktitipat, Bhoom B; Sathirareuangchai, Sakda S; Roothumnong, Ekkapong E; Thongnoppakhun, Wanna W; Wangkiratikant, Purin P; Vorasan, Nutchavadee N; Krittayaphong, Rungroj R; Pithukpakorn, Manop M; Boonyapisit, Warangkna W
Publication Date: 2017

Variant appearance in text: KCNH2: Gly516Ser
PubMed Link: 28704380
Variant Present in the following documents:
  • Main text
  • pone.0180056.pdf
View BVdb publication page