KCNH2 c.3124C>G ;(p.L1042V)

Variant ID: 7-150644444-G-C

NM_000238.3(KCNH2):c.3124C>G;(p.L1042V)

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:

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

European Journal Of Human Genetics : Ejhg
Robyns, Tomas T; Kuiperi, Cuno C; Breckpot, Jeroen J; Devriendt, Koenraad K; Souche, Erika E; Van Cleemput, Johan J; Willems, Rik R; Nuyens, Dieter D; Matthijs, Gert G; Corveleyn, Anniek A
Publication Date: 2017-12

Variant appearance in text: KCNH2: 3124C>G
PubMed Link: 29255176
Variant Present in the following documents:
  • Main text
View BVdb publication page