Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Glu1053Lys (p.E1053K)
(
ENST00000455624.6,
ENST00000450102.6,
ENST00000449557.6,
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7 )
SCN5A p.Glu1053Lys (p.E1053K) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Brugada Syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.
- Pubmed
- 15579534
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.837036083888799
- Year of publication
- 2004
Drugs