Y44* (p.Tyr44Ter) variant of G6PC1 (P35575)
Y44* (p.Tyr44Ter) in G6PC1 (P35575) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y44* (p.Tyr44Ter) variant details
- p.Tyr44Ter
- rs202190197
- ClinGen CA399650762
- ClinVar RCV003065867
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)