Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Glu1784Lys (p.E1784K)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Glu1784Lys (p.E1784K) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
- Pubmed
- 24871449
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.334978501186199
- Year of publication
- 2015
Drugs