Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Arg490Gln (p.R490Q)
(
ENST00000397163.8,
ENST00000318023.11,
ENST00000357568.8,
ENST00000349748.8 )
CAPN3 p.Arg490Gln (p.R490Q) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 ) - Associated Disease
- autosomal recessive limb-girdle muscular dystrophy type 2A
- Source Database
- ClinVar
- Description
- NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) AND Autosomal recessive limb-girdle muscular dystrophy type 2A
- ClinVar Allele ID
- 32661
- ClinVar RefSeq Alternation Syntax
- NM_024344.2:c.1469G>A
- ClinVar RefSeq Alternation Syntax
- NM_173087.2:c.1325G>A
- ClinVar RefSeq Alternation Syntax
- NM_000070.3:c.1469G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019189
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2A
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 15725583
Drugs