G15D (p.Gly15Asp) variant of HSD3B2 (P26439)
G15D (p.Gly15Asp) in HSD3B2 (P26439) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AH2. The record also includes published literature and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- UniProt VAR 010519
- Pathogenic
- in AH2
- Missense
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid… (PMID 7893703)