W68* (p.Trp68Ter) variant of PYGM (P11217)
W68* (p.Trp68Ter) in PYGM (P11217) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W68* (p.Trp68Ter) variant details
- p.Trp68Ter
- rs1057516349
- ClinGen CA16041507
- ClinVar RCV000411559
- TOPMed rs1057516349
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)