G20C (p.Gly20Cys) variant of SLC37A4 (O43826)
G20C (p.Gly20Cys) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The record also includes structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- Ensembl rs2134644210
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance (in GSD1B)
- UniProt: Uncertain significance (in GSD1B)
- Structural context available