rs587776452
This is a variant in the GATA1 gene that changes a valine to an leucine.
▶ClinVar annotation
Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia (XLTDA); X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
View on ClinVar →About GATA1
This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
View all GATA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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