I380T (p.Ile380Thr) variant of G6PD (P11413)
I380T (p.Ile380Thr) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The record also includes published literature and structural context.
I380T (p.Ile380Thr) variant details
- p.Ile380Thr
- rs2523262863
- ClinGen CA415234140
- ClinVar RCV002305779
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)