Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg582Cys (p.R582C)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg582Cys (p.R582C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- The R582C mutation is one of many Long-QT Syndrome type 2 (LQT2)-causing mutations localized to the human ether-a-go-go related gene (hERG) channel's S5-P linker subdomain, yet its specific mechanism of dysfunction has not been examined.
- Pubmed
- 21376840
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.38848280393755
- Year of publication
- 2011
Drugs