W23* (p.Trp23Ter) variant of ASS1 (Argininosuccinate synthase)
W23* (p.Trp23Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- rs1175810875
- ClinGen CA375223594
- ClinVar RCV003463553
- TOPMed rs1175810875
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)