Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg176Trp (p.R176W)
(
ENST00000262186.10,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2
- Source Database
- DisGeNET
- Description
- Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.
- Pubmed
- 10862094
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- 2000
Drugs