Gene entry
GATA2
GATA binding protein 2
- Chromosome
- 3
- Cytoband
- 3q21.3
- Variants (rsID)
- 7
GATA2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q21.3). Its official name is “GATA binding protein 2”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs45479594Benignsingle nucleotide variantDeafness-lymphedema-leukemia syndrome
- rs73203415Benignsingle nucleotide variantDeafness-lymphedema-leukemia syndrome
- rs78245253Benignsingle nucleotide variantDeafness-lymphedema-leukemia syndrome|Deafness-lymphedema-leukemia syndrome|Monocytopenia with susceptibility to infections
- rs201155045Conflicting interpretationssingle nucleotide variantDeafness-lymphedema-leukemia syndrome|Monocytopenia with susceptibility to infections|Deafness-lymphedema-leukemia syndrome|Monocytopenia with susceptibility to infections|Myelodysplastic syndrome|Acute myeloid leukemia|Deafness-lymphedema-leukemia syndrome|Deafness-lymphedema-leukemia syndrome|GATA2 deficiency with susceptibility to MDS/AML
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.