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
- rippling muscle disease 1
- Source Database
- DisGeNET
- Description
- We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy.
- Pubmed
- 22245016
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125700279313686
- Year of publication
- 2012
Drugs