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Gene entry

ABAT

4-aminobutyrate aminotransferase

Chromosome
16
Cytoband
16p13.2
Variants (rsID)
56

ABAT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.2). Its official name is “4-aminobutyrate aminotransferase”. The reference table lists 56 variants (rsID) for this gene.

Clinically classified variants

8 reference-table entries with clinical significance.

  • rs1731017Benignsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency
  • rs17651562Benignsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency
  • rs17674530Benignsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency
  • rs34813662Benignsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency
  • rs41312254Benignsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency
  • rs79763179Benignsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency
  • rs149271402Likely benignsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency
  • rs121434578Pathogenicsingle nucleotide variantGamma-aminobutyric acid transaminase deficiency

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.