Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Arg769Gln (p.R769Q)
(
ENST00000337571.9,
ENST00000357568.8,
ENST00000397163.8,
ENST00000397200.8,
ENST00000397204.9,
ENST00000349748.8,
ENST00000569136.6,
ENST00000561817.5,
ENST00000318023.11,
ENST00000673743.1,
ENST00000673771.1,
ENST00000674093.1,
ENST00000674119.1,
ENST00000673692.1,
ENST00000674018.1,
ENST00000673936.1,
ENST00000674139.1,
ENST00000674146.1,
ENST00000674149.1,
ENST00000673978.1,
ENST00000673750.1,
ENST00000673890.1,
ENST00000674052.1,
ENST00000673886.1,
ENST00000673928.1,
ENST00000673851.1 )
CAPN3 p.Arg769Gln (p.R769Q) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 ) - Associated Disease
- Limb-girdle muscular dystrophy type 2A
- Source Database
- DisGeNET
- Description
- A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy.
- Pubmed
- 14645990
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.573300651731935
- Year of publication
- 2003
Drugs