Q45* (p.Gln45Ter) variant of PARK7 (Parkinson disease protein 7)
Q45* (p.Gln45Ter) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PARK7. The record also includes structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- rs1553122918
- ClinGen CA338164712
- ClinVar RCV001095538
- Ensembl rs1553122918
- Pathogenic
- in PARK7
- Stop Gained
- EBI: Pathogenic (in PARK7)
- UniProt: Pathogenic (in PARK7)
- Structural context available