Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Gly567Trp (p.G567W)
(
ENST00000349748.8,
ENST00000357568.8,
ENST00000397200.8,
ENST00000318023.11,
ENST00000397163.8 )
CAPN3 p.Gly567Trp (p.G567W) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8 ) - Associated Disease
- CAPN3-related disorder
- Source Database
- ClinVar
- Description
- NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) AND CAPN3-related disorder
- ClinVar Allele ID
- 177149
- ClinVar RefSeq Alternation Syntax
- NM_024344.2:c.1699G>T
- ClinVar RefSeq Alternation Syntax
- NM_173087.2:c.1555G>T
- ClinVar RefSeq Alternation Syntax
- NM_000070.3:c.1699G>T
- ClinVar RefSeq Alternation Syntax
- NM_173088.2:c.163G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004532716
- ClinVar Disease
- CAPN3-related disorder
- Observed Origin Sample
- germline
Drugs