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Gene entry

GATA1

GATA binding protein 1

Chromosome
X
Cytoband
Xp11.23
Variants (rsID)
3

GATA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.23). Its official name is “GATA binding protein 1”. The reference table lists 3 variants (rsID) for this gene.

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Clinically classified variants

2 reference-table entries with clinical significance.

  • rs104894808Pathogenicsingle nucleotide variantThrombocytopenia, X-linked, with dyserythropoietic anemia|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
  • rs104894809Pathogenicsingle nucleotide variantBeta-thalassemia-X-linked thrombocytopenia syndrome|Diamond-Blackfan anemia|GATA binding protein 1 related thrombocytopenia with dyserythropoiesis|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.