Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Leu14Pro (p.L14P)
(
ENST00000352508.7,
ENST00000529341.1,
ENST00000298854.7,
ENST00000524487.5 )
RAPSN p.Leu14Pro (p.L14P) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) AND multiple conditions
- ClinVar Allele ID
- 23086
- ClinVar RefSeq Alternation Syntax
- NM_005055.5:c.41T>C
- ClinVar RefSeq Alternation Syntax
- NM_032645.5:c.41T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001851738
- ClinVar Disease
- Fetal akinesia deformation sequence 1
- ClinVar Disease
- Congenital myasthenic syndrome 11
- Observed Origin Sample
- germline
Drugs