Q50* (p.Gln50Ter) variant of HMBS (Porphobilinogen deaminase)
Q50* (p.Gln50Ter) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q50* (p.Gln50Ter) variant details
- p.Gln50Ter
- rs2134856747
- ClinGen CA382888592
- ClinVar RCV001389643
- Ensembl rs2134856747
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available