Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Gly56Ser (p.G56S)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Cys72Trp (p.C72W) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Gly56Ser (p.G56S) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Cys72Trp (p.C72W) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- Muscular Dystrophies, Limb-Girdle
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.251139048276957
- Year of publication
- NA
Drugs