Gene entry
AMT
aminomethyltransferase
- Chromosome
- 3
- Cytoband
- 3p21.31
- Variants (rsID)
- 12
AMT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “aminomethyltransferase”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs116192290Benignsingle nucleotide variantNon-ketotic hyperglycinemia
- rs144971200Benignsingle nucleotide variantNon-ketotic hyperglycinemia
- rs141246107Conflicting interpretationssingle nucleotide variantNon-ketotic hyperglycinemia
- rs148917929Conflicting interpretationssingle nucleotide variantNon-ketotic hyperglycinemia
- rs121964984Pathogenicsingle nucleotide variantNon-ketotic hyperglycinemia
- rs121964985Pathogenicsingle nucleotide variantNon-ketotic hyperglycinemia
- rs386833679Pathogenicsingle nucleotide variantNon-ketotic hyperglycinemia|See cases
- rs386833690Pathogenicsingle nucleotide variantNon-ketotic hyperglycinemia
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.