KCNH2 c.1982C>T ;(p.A661V)

Variant ID: 7-150648172-G-A

NM_000238.3(KCNH2):c.1982C>T;(p.A661V)

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:

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

Heartrhythm Case Reports
Oomen, Ad W G J AWGJ; Jones, Katherine K; Yeates, Laura L; Semsarian, Christopher C; Ingles, Jodie J; Sy, Raymond W RW
Publication Date: 2018-07

Variant appearance in text: KCNH2: 1982C>T; Ala661Val
PubMed Link: 30023281
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page