Q96* (p.Gln96Ter) variant of CHM (P24386)
Q96* (p.Gln96Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q96* (p.Gln96Ter) variant details
- p.Gln96Ter
- rs1931431411
- ClinGen CA413787826
- ClinVar RCV001212672
- ClinVar RCV003890363
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available