Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Ala246Val (p.A246V)
(
ENST00000298854.7,
ENST00000524487.5,
ENST00000352508.7,
ENST00000529341.1 )
RAPSN p.Ala246Val (p.A246V) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- Fetal akinesia deformation sequence 2
- Source Database
- ClinVar
- Description
- NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) AND Fetal akinesia deformation sequence 2
- ClinVar Allele ID
- 194409
- ClinVar RefSeq Alternation Syntax
- NM_005055.5:c.737C>T
- ClinVar RefSeq Alternation Syntax
- NM_032645.5:c.737C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003462285
- ClinVar Disease
- Fetal akinesia deformation sequence 2
- Observed Origin Sample
- unknown
Drugs