Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Thr78Lys (p.T78K)
(
ENST00000397368.2,
ENST00000343849.3 )
CAV3 p.Thr78Met (p.T78M) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Thr78Lys (p.T78K) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Thr78Met (p.T78M) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- LONG QT SYNDROME 9 (disorder)
- Source Database
- DisGeNET
- Description
- Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
- Pubmed
- 17060380
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36027144187208
- Year of publication
- 2006
Drugs