Gene entry
OAT
ornithine aminotransferase
- Chromosome
- 10
- Cytoband
- 10q26.13
- Variants (rsID)
- 15
OAT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q26.13). Its official name is “ornithine aminotransferase”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs117824913Benignsingle nucleotide variantOrnithine aminotransferase deficiency
- rs386833600Conflicting interpretationsMicrosatelliteOrnithine aminotransferase deficiency
- rs386833618Likely pathogenicsingle nucleotide variantOrnithine aminotransferase deficiency
- rs121965040Pathogenicsingle nucleotide variantOrnithine aminotransferase deficiency
- rs121965043Pathogenicsingle nucleotide variantOrnithine aminotransferase deficiency
- rs121965047Pathogenicsingle nucleotide variantGyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia|Ornithine aminotransferase deficiency
- rs121965053Pathogenicsingle nucleotide variantOrnithine aminotransferase deficiency
- rs200068769Pathogenicsingle nucleotide variantOrnithine aminotransferase deficiency
- rs386833598Pathogenicsingle nucleotide variantOrnithine aminotransferase deficiency
- rs386833621Pathogenicsingle nucleotide variantOrnithine aminotransferase deficiency
- rs386833603Uncertain significancesingle nucleotide variantOrnithine aminotransferase 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.