Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Leu87His (p.L87H)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Leu87Pro (p.L87P) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala93Thr (p.A93T) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala93Ser (p.A93S) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Leu87His (p.L87H) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Leu87Pro (p.L87P) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala93Thr (p.A93T) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala93Ser (p.A93S) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- Rippling muscle disease
- Source Database
- DisGeNET
- Description
- Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
- Pubmed
- 12666119
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.245700279313686
- Year of publication
- 2003
Drugs