Q106* (p.Gln106Ter) variant of CHM (P24386)
Q106* (p.Gln106Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q106* (p.Gln106Ter) variant details
- p.Gln106Ter
- rs2520273810
- ClinGen CA413787456
- ClinVar RCV003064746
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available