KCNH2 c.1756C>G ;(p.L586V)

Variant ID: 7-150648725-G-C

NM_000238.3(KCNH2):c.1756C>G;(p.L586V)

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:

Torsades De Pointes Electrical Storm Induced by H1N1 in a Patient with KCNH2 Variant of Unknown Significance.

Case Reports In Cardiology
Khiatah, Bashar B; Dukes, Jonathan J; Desai, Christina C; Frugoli, Amanda A
Publication Date: 2020

Variant appearance in text: KCNH2: Leu586Val
PubMed Link: 32774932
Variant Present in the following documents:
  • Main text
  • CRIC2020-8889769.pdf
View BVdb publication page