Q32* (p.Gln32Ter) variant of OTC (P00480)
Q32* (p.Gln32Ter) in OTC (P00480) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs72554304
- ClinGen CA224854
- ClinVar RCV000083618
- Ensembl rs72554304
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available