Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Arg490Gln (p.R490Q)
(
ENST00000397163.8,
ENST00000318023.11,
ENST00000357568.8,
ENST00000349748.8 )
CAPN3 p.Arg490Pro (p.R490P) ( ENST00000397163.8, ENST00000357568.8, ENST00000318023.11, ENST00000349748.8 )
CAPN3 p.Arg490Gln (p.R490Q) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg490Pro (p.R490P) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 ) - Associated Disease
- Muscular Dystrophy, Facioscapulohumeral
- Source Database
- DisGeNET
- Description
- Using exome sequencing, we identified two known pathogenic mutations in CAPN3 (Arg490Gln and Thr184Argfs(*)36), indicating a case of LGMD2A rather than FSHD.
- Pubmed
- 22378277
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs