Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN c.-210A>G
RAPSN c.-210A>G - Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.-210A>G AND Abnormality of the musculature
- ClinVar Allele ID
- 23090
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813966
- Observed Origin Sample
- germline
Drugs