Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Asp1595His (p.D1595H)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Asp1595Asn (p.D1595N) ( ENST00000423572.7, ENST00000414099.6, ENST00000450102.6, ENST00000449557.6, ENST00000413689.6, ENST00000333535.9, ENST00000455624.6 )
SCN5A p.Arg814Trp (p.R814W) ( ENST00000413689.6, ENST00000333535.9, ENST00000423572.7, ENST00000450102.6, ENST00000455624.6, ENST00000414099.6, ENST00000449557.6 )
SCN5A c.703+188C>T ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Asp1595His (p.D1595H) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Asp1595Asn (p.D1595N) ( ENST00000455624.6, ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6 )
SCN5A p.Arg814Trp (p.R814W) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A c.703+188C>T ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Heart Diseases
- Source Database
- DisGeNET
- Description
- In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (2550-2551insTG) SCN5A mutations, segregating with cardiac disease or arising de novo, were discovered in unrelated probands.
- Pubmed
- 15671429
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0102587093122591
- Year of publication
- 2005
Drugs