Gene entry
MTFMT
mitochondrial methionyl-tRNA formyltransferase
- Chromosome
- 15
- Cytoband
- 15q22.31
- Variants (rsID)
- 16
MTFMT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q22.31). Its official name is “mitochondrial methionyl-tRNA formyltransferase”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs188461284Benignsingle nucleotide variant
- rs2946655Benignsingle nucleotide variant
- rs35302908Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 15
- rs200286768Pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 27|Combined oxidative phosphorylation defect type 15
- rs201431517Pathogenicsingle nucleotide variantCombined oxidative phosphorylation defect type 15|Leigh syndrome|6 conditions|Mitochondrial complex 1 deficiency, nuclear type 27|See cases
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.
