Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Glu162Lys (p.E162K)
(
ENST00000524487.5,
ENST00000298854.7,
ENST00000529341.1,
ENST00000352508.7 )
RAPSN p.Glu162Lys (p.E162K) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- Fetal akinesia deformation sequence 1 congenital myasthenic syndrome 11
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) AND multiple conditions
- ClinVar Allele ID
- 23095
- ClinVar RefSeq Alternation Syntax
- NM_005055.5:c.484G>A
- ClinVar RefSeq Alternation Syntax
- NM_032645.5:c.484G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001231489
- ClinVar Disease
- Fetal akinesia deformation sequence 1
- ClinVar Disease
- Congenital myasthenic syndrome 11
- Observed Origin Sample
- germline
Drugs