Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Ile593Arg (p.I593R)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ile593Thr (p.I593T) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Lys (p.I593K) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Arg (p.I593R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Thr (p.I593T) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Ile593Lys (p.I593K) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2
- Source Database
- DisGeNET
- Description
- Missense mutation in the pore region of HERG causes familial long QT syndrome.
- Pubmed
- 8635257
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- 1996
Drugs