Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Arg164Cys (p.R164C)
(
ENST00000524487.5,
ENST00000298854.7,
ENST00000529341.1,
ENST00000352508.7 )
RAPSN p.Arg164Cys (p.R164C) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- Fetal akinesia deformation sequence 2
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) AND Fetal akinesia deformation sequence 2
- ClinVar Allele ID
- 23093
- ClinVar RefSeq Alternation Syntax
- NM_005055.5:c.490C>T
- ClinVar RefSeq Alternation Syntax
- NM_032645.5:c.490C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003466839
- ClinVar Disease
- Fetal akinesia deformation sequence 2
- Observed Origin Sample
- unknown
Drugs