Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Ala913Val (p.A913V)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ala913Val (p.A913V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Long QT syndrome 2/9, digenic
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs