Q76* (p.Gln76Ter) variant of CHM (P24386)
Q76* (p.Gln76Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q76* (p.Gln76Ter) variant details
- p.Gln76Ter
- rs1931439989
- ClinGen CA413788086
- ClinVar RCV001212767
- Ensembl rs1931439989
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available