Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Thr184ArgfsTer36 (p.T184Rfs*36)
(
ENST00000397163.8,
ENST00000349748.8,
ENST00000318023.11,
ENST00000357568.8 )
CAPN3 p.Thr184ArgfsTer36 (p.T184Rfs*36) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 ) - Associated Disease
- Muscular Dystrophies, Limb-Girdle
- Source Database
- DisGeNET
- Description
- The CAPN3 gene mutation c.550delA is rather frequently observed in German patients with LGMD2, but also occasionally in cases with isolated hyperCKemia.
- Pubmed
- 17702496
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0359097792879131
- Year of publication
- 2007
Drugs