Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Ile1836Thr (p.I1836T)
(
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) ( ENST00000423572.7, ENST00000414099.6, ENST00000450102.6, ENST00000449557.6, ENST00000413689.6, ENST00000333535.9, ENST00000455624.6 )
SCN5A p.Asp1275Tyr (p.D1275Y) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Asp1275Asn (p.D1275N) ( ENST00000414099.6, ENST00000423572.7, ENST00000333535.9, ENST00000450102.6, ENST00000455624.6, ENST00000449557.6, ENST00000413689.6 )
SCN5A p.Arg523Cys (p.R523C) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A c.703+194G>A ( ENST00000413689.6, ENST00000423572.7, ENST00000450102.6, ENST00000333535.9, ENST00000455624.6, ENST00000449557.6, ENST00000414099.6 )
SCN5A c.703+188C>T ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Ile1836Thr (p.I1836T) ( 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.Asp1275Tyr (p.D1275Y) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Asp1275Asn (p.D1275N) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Arg523Cys (p.R523C) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A c.703+194G>A ( 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 )
SCN5A p.Phe851LeufsTer19 (p.F851Lfs*19)
SCN5A p.Phe851LeufsTer19 (p.F851Lfs*19) - Associated Disease
- CARDIOMYOPATHY, DILATED, 1E
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs