Annotation Detail
Information
- Associated Genes
- EPHA3
- Associated Variants
-
SCN5A p.Tyr1795Cys (p.Y1795C)
(
ENST00000333535.9,
ENST00000450102.6,
ENST00000455624.6,
ENST00000449557.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000413689.6 )
SCN5A p.Tyr1795His (p.Y1795H) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Tyr1795Cys (p.Y1795C) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Tyr1795His (p.Y1795H) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Brugada Syndrome (disorder)
- Source Database
- DisGeNET
- Description
- We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures.
- Pubmed
- 11410597
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2001
Drugs