Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Ala46Thr (p.A46T)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Ala46Ser (p.A46S) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Thr (p.A46T) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Ser (p.A46S) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- rippling muscle disease 1
- Source Database
- DisGeNET
- Description
- Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
- Pubmed
- 20229577
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125700279313686
- Year of publication
- 2010
Drugs