H289Y (p.His289Tyr) variant of GATA1 (Erythroid transcription factor)
H289Y (p.His289Tyr) 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.
H289Y (p.His289Tyr) variant details
- p.His289Tyr
- rs2519345787
- ClinGen CA412871436
- ClinVar RCV002281011
- 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)