Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Ser1103Phe (p.S1103F)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Ser1103Tyr (p.S1103Y) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Ser1103Phe (p.S1103F) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Ser1103Tyr (p.S1103Y) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- sudden infant death syndrome
- Source Database
- DisGeNET
- Description
- Our data provide evidence that SCN5A allelic expression imbalance occurs in African-Americans heterozygous for p.Ser1103Tyr, but this phenomenon alone does not appear to be a marker for risk of SIDS.
- Pubmed
- 20470418
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.385708489934098
- Year of publication
- 2010
Drugs