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
- CAPN3-related disorder
- Source Database
- ClinVar
- Description
- NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND CAPN3-related disorder
- ClinVar Allele ID
- 32660
- ClinVar RefSeq Alternation Syntax
- NM_000070.3:c.550del
- ClinVar RefSeq Alternation Syntax
- NM_024344.2:c.550del
- ClinVar RefSeq Alternation Syntax
- NM_173087.2:c.550del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001849271
- ClinVar Disease
- CAPN3-related disorder
- Observed Origin Sample
- germline
Drugs