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Gene entry

GATA4

GATA binding protein 4

Chromosome
8
Cytoband
8p23.1
Variants (rsID)
34

GATA4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p23.1). Its official name is “GATA binding protein 4”. The reference table lists 34 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs3729856Benignsingle nucleotide variantCardiovascular phenotype|Atrioventricular septal defect 4
  • rs3735819Benignsingle nucleotide variantCongenital heart disease
  • rs804280Benignsingle nucleotide variantCongenital heart disease|Atrioventricular septal defect 4
  • rs115099192Conflicting interpretationssingle nucleotide variantTetralogy of Fallot|Ventricular septal defect 1|Atrial septal defect 2|Ventricular septal defect 1|Atrioventricular septal defect 4|Atrioventricular septal defect 4|46,XY sex reversal 3|Microcephaly|Testicular anomalies with or without congenital heart disease
  • rs56208331Conflicting interpretationssingle nucleotide variantTetralogy of Fallot|Atrial septal defect 2|Inborn genetic diseases|Pulmonary valve atresia|Tricuspid regurgitation|Pulmonic stenosis|Atrioventricular septal defect 4
  • rs115372595Likely benignsingle nucleotide variantAtrioventricular septal defect 4|Cardiovascular phenotype|46,XY sex reversal 3

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.