Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Arg367Leu (p.R367L)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Arg367His (p.R367H) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Arg121Gln (p.R121Q) ( ENST00000449557.6, ENST00000423572.7, ENST00000450102.6, ENST00000455624.6, ENST00000333535.9, ENST00000413689.6, ENST00000414099.6 )
SCN5A p.Val95Leu (p.V95L) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Val95Ile (p.V95I) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Arg367Leu (p.R367L) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Arg367His (p.R367H) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000450102.6, ENST00000455624.6, ENST00000449557.6 )
SCN5A p.Arg121Gln (p.R121Q) ( ENST00000449557.6, ENST00000450102.6, ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000455624.6 )
SCN5A p.Val95Leu (p.V95L) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Val95Ile (p.V95I) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Brugada Syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.
- Pubmed
- 24529773
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.837036083888799
- Year of publication
- 2013
Drugs