Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Asn88Lys (p.N88K)
(
ENST00000298854.7,
ENST00000529341.1,
ENST00000352508.7,
ENST00000524487.5 )
RAPSN p.Asn88Lys (p.N88K) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- congenital myasthenic syndrome
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Congenital myasthenic syndrome
- ClinVar Allele ID
- 23085
- ClinVar RefSeq Alternation Syntax
- NM_005055.5:c.264C>A
- ClinVar RefSeq Alternation Syntax
- NM_032645.5:c.264C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000235028
- ClinVar Disease
- Congenital myasthenic syndrome
- Observed Origin Sample
- germline
Drugs