Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Ala561Val (p.A561V)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ala561Val (p.A561V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2
- Source Database
- DisGeNET
- Description
- We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free reprogramming method.
- Pubmed
- 24623279
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- 2015
Drugs