Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Val1951Leu (p.V1951L)
(
ENST00000414099.6,
ENST00000333535.9,
ENST00000423572.7,
ENST00000413689.6,
ENST00000450102.6,
ENST00000449557.6,
ENST00000455624.6 )
SCN5A p.Val1951Met (p.V1951M) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Val1951Leu (p.V1951L) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Val1951Met (p.V1951M) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Atrial fibrillation, familial, 10
- Source Database
- DisGeNET
- Description
- Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
- Pubmed
- 18378609
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2008
Drugs