Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Arg49Cys (p.R49C)
(
ENST00000349748.8,
ENST00000397163.8,
ENST00000318023.11,
ENST00000357568.8 )
CAPN3 p.Arg49Cys (p.R49C) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 ) - Associated Disease
- autosomal recessive limb-girdle muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) AND Autosomal recessive limb-girdle muscular dystrophy
- ClinVar Allele ID
- 190202
- ClinVar RefSeq Alternation Syntax
- NM_024344.2:c.145C>T
- ClinVar RefSeq Alternation Syntax
- NM_173087.2:c.145C>T
- ClinVar RefSeq Alternation Syntax
- NM_000070.3:c.145C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-01-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003114322
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy
- Observed Origin Sample
- germline
Drugs