Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Ala614Val (p.A614V)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ala614Val (p.A614V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- DisGeNET
- Description
- Here we report the development of a patient/disease-specific human iPSC line from a patient with type-2 LQTS (which is due to the A614V missense mutation in the KCNH2 gene).
- Pubmed
- 21240260
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.131672000499453
- Year of publication
- 2011
Drugs