E67* (p.Glu67Ter) variant of ASS1 (Argininosuccinate synthase)
E67* (p.Glu67Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E67* (p.Glu67Ter) variant details
- p.Glu67Ter
- rs1257036291
- ClinGen CA375224882
- ClinVar RCV003761019
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available