K70* (p.Lys70Ter) variant of HMBS (Porphobilinogen deaminase)
K70* (p.Lys70Ter) 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.
K70* (p.Lys70Ter) variant details
- p.Lys70Ter
- rs1946168990
- ClinGen CA1139662390
- ClinVar RCV001210087
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available