Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Asn1325Ser (p.N1325S)
(
ENST00000333535.9,
ENST00000423572.7,
ENST00000450102.6,
ENST00000455624.6,
ENST00000449557.6,
ENST00000414099.6,
ENST00000413689.6 )
SCN5A p.Asn1325Ser (p.N1325S) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Cardiac fibrosis
- Source Database
- DisGeNET
- Description
- Our findings revealed for the first time that the LQTS mutation N1325S in SCN5A causes cardiac fibrosis and contractile dysfunction in mice, possibly through cellular mechanisms involving aberrant cardiomyocyte apoptosis.
- Pubmed
- 19762097
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2011
Drugs