T296P (p.Thr296Pro) variant of GATA1 (Erythroid transcription factor)
T296P (p.Thr296Pro) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombocytopenia, X-linked, with or without dyserythropoietic anemia. The record also includes published literature and structural context.
T296P (p.Thr296Pro) variant details
- p.Thr296Pro
- rs2519346409
- ClinGen CA412871492
- ClinVar RCV003325446
- Pathogenic
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- Missense
- ClinVar: Pathogenic (Thrombocytopenia, X-linked, with or without dyserythropoietic an)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)