F26S (p.Phe26Ser) variant of G6PD (P11413)
F26S (p.Phe26Ser) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The record also includes published literature and structural context.
F26S (p.Phe26Ser) variant details
- p.Phe26Ser
- rs2523308623
- ClinGen CA415202182
- ClinVar RCV002296233
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)