Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Glu446Lys (p.E446K)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Glu446Lys (p.E446K) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Torsades de pointes
- Source Database
- DisGeNET
- Description
- Two of the 13 patients (15%) who presented with QT prolongation and TdP were found to carry long QT syndrome mutations (KCNH2-R744X and SCN5A-E446K).
- Pubmed
- 22338672
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.247534359069792
- Year of publication
- 2012
Drugs