rs782005360

This variant is located in the GATA1 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

Diamond-Blackfan anemia;GATA binding protein 1 related thrombocytopenia with dyserythropoiesis

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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