Annotation Detail
Information
- Associated Genes
- SRD5A2
- Associated Variants
-
SRD5A2 p.Ala88= (p.A88=)
(
ENST00000622030.2 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 ) - Associated Disease
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Source Database
- ClinVar
- Description
- NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- ClinVar Allele ID
- 103292
- ClinVar RefSeq Alternation Syntax
- NM_000348.4:c.265C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001516898
- ClinVar Disease
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Observed Origin Sample
- germline
Drugs