C72* (p.Cys72Ter) variant of HSD3B2 (P26439)
C72* (p.Cys72Ter) in HSD3B2 (P26439) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C72* (p.Cys72Ter) variant details
- p.Cys72Ter
- rs2101343665
- ClinGen CA341395069
- ClinVar RCV001992690
- Ensembl rs2101343665
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available