Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Arg572Gln (p.R572Q)
(
ENST00000349748.8,
ENST00000357568.8,
ENST00000397200.8,
ENST00000318023.11,
ENST00000397163.8 )
CAPN3 p.Arg572Gln (p.R572Q) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8 ) - Associated Disease
- Muscular dystrophy, limb-girdle, autosomal dominant 4
- Source Database
- ClinVar
- Description
- NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) AND Muscular dystrophy, limb-girdle, autosomal dominant 4
- ClinVar Allele ID
- 32653
- ClinVar RefSeq Alternation Syntax
- NM_173088.2:c.179G>A
- ClinVar RefSeq Alternation Syntax
- NM_000070.3:c.1715G>A
- ClinVar RefSeq Alternation Syntax
- NM_024344.2:c.1715G>A
- ClinVar RefSeq Alternation Syntax
- NM_173087.2:c.1571G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001198825
- ClinVar Disease
- Muscular dystrophy, limb-girdle, autosomal dominant 4
- Observed Origin Sample
- unknown
Drugs