Annotation Detail
Information
- Associated Genes
- SRD5A2
- Associated Variants
-
SRD5A2 p.Glu227Lys (p.E227K)
(
ENST00000622030.2 )
SRD5A2 p.Arg227Gln (p.R227Q) ( ENST00000622030.2 ) - Associated Disease
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Source Database
- ClinVar
- Description
- NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- ClinVar Allele ID
- 18390
- ClinVar RefSeq Alternation Syntax
- NM_000348.4:c.680G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000288398
- ClinVar Disease
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Observed Origin Sample
- somatic
- Observed Origin Sample
- unknown
Drugs