Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Cys72Trp (p.C72W)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Thr78Lys (p.T78K) ( ENST00000397368.2, ENST00000343849.3 )
CAV3 p.Thr78Met (p.T78M) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Cys72Trp (p.C72W) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Thr78Lys (p.T78K) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Thr78Met (p.T78M) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- sudden infant death syndrome
- Source Database
- DisGeNET
- Description
- In silico prediction tools were applied to variants present in ESP and 6 SIDS-associated variants (CAV3 p.C72W, p.T78M; KCNH2 p.R148W, and SCN5A p.S216L, p.V1951L, p.F2004L) were genotyped in our own control population.
- Pubmed
- 23465283
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124081559602869
- Year of publication
- 2013
Drugs