Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Arg1623Ter (p.R1623*)
(
ENST00000423572.7,
ENST00000450102.6,
ENST00000455624.6,
ENST00000413689.6,
ENST00000449557.6,
ENST00000333535.9,
ENST00000414099.6 )
SCN5A p.Arg1623= (p.R1623=) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Gly1408Arg (p.G1408R) ( ENST00000413689.6, ENST00000333535.9, ENST00000423572.7, ENST00000414099.6, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Pro1298Leu (p.P1298L) ( 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.Arg1623Ter (p.R1623*) ( ENST00000423572.7, ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Arg1623= (p.R1623=) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Gly1408Arg (p.G1408R) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Pro1298Leu (p.P1298L) ( 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
- SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36027144187208
- Year of publication
- NA
Drugs