Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Gly572Cys (p.G572C)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Gly572Arg (p.G572R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Ser (p.G572S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Cys (p.G572C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Arg (p.G572R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Ser (p.G572S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
- Pubmed
- 10735633
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.38848280393755
- Year of publication
- 2000
Drugs