Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN c.-210A>G
RAPSN c.-210A>G - Associated Disease
- Fetal akinesia deformation sequence 2 congenital myasthenic syndrome 11
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.-210A>G AND multiple conditions
- ClinVar Allele ID
- 23090
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001824563
- ClinVar Disease
- Fetal akinesia deformation sequence 2
- ClinVar Disease
- Congenital myasthenic syndrome 11
- Observed Origin Sample
- unknown
Drugs