Annotation Detail

Information
Associated Genes
SCN5A
Associated Variants
SCN5A p.Ala1680Thr (p.A1680T) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Cys982Arg (p.C982R) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Ala1680Thr (p.A1680T) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Cys982Arg (p.C982R) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
Associated Disease
Sudden cardiac death
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.142375242599014
Year of publication
NA
Drugs