S278F (p.Ser278Phe) variant of G6PD (P11413)
S278F (p.Ser278Phe) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The record also includes published literature and structural context.
S278F (p.Ser278Phe) variant details
- p.Ser278Phe
- rs2523265461
- ClinGen CA415235166
- ClinVar RCV002305699
- ClinVar RCV005433816
- Likely pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- ClinVar: Likely pathogenic (not provided; Anemia, nonspherocytic hemolytic, due to G6PD defi)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. (PMID 7858267)
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)