Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN c.-210A>G
RAPSN c.-210A>G - Associated Disease
- congenital myasthenic syndrome 11
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.-210A>G AND Congenital myasthenic syndrome 11
- ClinVar Allele ID
- 23090
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2020-09-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008517
- ClinVar Disease
- Congenital myasthenic syndrome 11
- Observed Origin Sample
- germline
- Pubmed
- 2245297
- Pubmed
- 12651869
- Pubmed
- 15282317
Drugs