Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Thr184Met (p.T184M)
(
ENST00000397163.8,
ENST00000357568.8,
ENST00000318023.11,
ENST00000349748.8 )
CAPN3 p.Arg490Trp (p.R490W) ( ENST00000318023.11, ENST00000357568.8, ENST00000349748.8, ENST00000397163.8 )
CAPN3 p.Ser606Leu (p.S606L) ( ENST00000337571.9, ENST00000357568.8, ENST00000397200.8, ENST00000673978.1, ENST00000561817.5, ENST00000674149.1, ENST00000673692.1, ENST00000674119.1, ENST00000318023.11, ENST00000674139.1, ENST00000349748.8, ENST00000674018.1, ENST00000673936.1, ENST00000674146.1, ENST00000673890.1, ENST00000673750.1, ENST00000674052.1, ENST00000397163.8, ENST00000673928.1, ENST00000397204.9, ENST00000673886.1, ENST00000673851.1, ENST00000569136.6, ENST00000673771.1, ENST00000673743.1, ENST00000674093.1 )
CAPN3 p.Thr184Met (p.T184M) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg490Trp (p.R490W) ( ENST00000397163.8, ENST00000318023.11, ENST00000349748.8, ENST00000357568.8 )
CAPN3 p.Ser606Leu (p.S606L) ( ENST00000674149.1, ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673886.1, ENST00000674146.1, ENST00000674139.1, ENST00000674119.1, ENST00000674093.1, ENST00000674052.1, ENST00000674018.1, ENST00000673978.1, ENST00000673936.1, ENST00000673771.1, ENST00000673928.1, ENST00000673890.1, ENST00000673851.1 ) - Associated Disease
- Limb-girdle muscular dystrophy type 2A
- Source Database
- DisGeNET
- Description
- Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles.
- Pubmed
- 10330340
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.573300651731935
- Year of publication
- 1999
Drugs