Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Val45Met (p.V45M)
(
ENST00000298854.7,
ENST00000529341.1,
ENST00000524487.5,
ENST00000352508.7 )
RAPSN p.Val45Met (p.V45M) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- congenital myasthenic syndrome 11
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND Congenital myasthenic syndrome 11
- ClinVar Allele ID
- 23094
- ClinVar RefSeq Alternation Syntax
- NM_005055.5:c.133G>A
- ClinVar RefSeq Alternation Syntax
- NM_032645.5:c.133G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008521
- ClinVar Disease
- Congenital myasthenic syndrome 11
- Observed Origin Sample
- germline
- Pubmed
- 17594401
Drugs