Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Arg1193Gln (p.R1193Q)
(
ENST00000413689.6,
ENST00000333535.9,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Arg1193Gln (p.R1193Q) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome.
- Pubmed
- 22682427
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.334978501186199
- Year of publication
- 2012
Drugs