Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Thr65Pro (p.T65P)
(
ENST00000262186.10,
ENST00000713710.1 )
KCNH2 p.Thr65Pro (p.T65P) ( ENST00000262186.10, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.
- Pubmed
- 12354768
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.38848280393755
- Year of publication
- 2002
Drugs