KCNH2 c.1225G>T ;(p.V409L)

Variant ID: 7-150649845-C-A

NM_000238.3(KCNH2):c.1225G>T;(p.V409L)

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:

Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine
Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM
Publication Date: 2020-09

Variant appearance in text: KCNH2: 1225G>T
PubMed Link: 32383558
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1300.pdf
  • MGG3-8-e1300-s001.xlsx, sheet 1
View BVdb publication page