G196D (p.Gly196Asp) variant of SRD5A2 (P31213)
G196D (p.Gly196Asp) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The record also includes structural context.
G196D (p.Gly196Asp) variant details
- p.Gly196Asp
- rs2465625655
- ClinGen CA346598066
- NCI-TCGA Cosmic COSV9925
- ClinVar RCV003459921
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Structural context available