D38G (p.Asp38Gly) variant of G6PC1 (P35575)
D38G (p.Asp38Gly) in G6PC1 (P35575) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GSD1A. The record also includes structural context.
D38G (p.Asp38Gly) variant details
- p.Asp38Gly
- ExAC rs104894565
- TOPMed rs104894565
- gnomAD rs104894565
- Pathogenic
- in GSD1A
- Missense
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Structural context available