Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 c.1194-9A>G
(
ENST00000349748.8,
ENST00000318023.11,
ENST00000397163.8,
ENST00000357568.8 )
CAPN3 c.1194-9A>G ( ENST00000397163.8, ENST00000318023.11, ENST00000349748.8, ENST00000357568.8 ) - Associated Disease
- autosomal recessive limb-girdle muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_000070.3(CAPN3):c.1194-9A>G AND Autosomal recessive limb-girdle muscular dystrophy
- ClinVar Allele ID
- 213827
- ClinVar RefSeq Alternation Syntax
- NM_173087.2:c.1050-9A>G
- ClinVar RefSeq Alternation Syntax
- NM_000070.3:c.1194-9A>G
- ClinVar RefSeq Alternation Syntax
- NM_024344.2:c.1194-9A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003225933
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy
- Observed Origin Sample
- germline
Drugs