Gene entry
TSFM
Ts translation elongation factor, mitochondrial
- Chromosome
- 12
- Cytoband
- 12q14.1
- Variants (rsID)
- 7
TSFM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q14.1). Its official name is “Ts translation elongation factor, mitochondrial”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs62000432Benignsingle nucleotide variantFatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- rs146777264Conflicting interpretationssingle nucleotide variantFatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- rs368313488Conflicting interpretationssingle nucleotide variantFatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- rs587777688Conflicting interpretationssingle nucleotide variantFatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- rs121909485Pathogenicsingle nucleotide variantFatal mitochondrial disease due to combined oxidative phosphorylation defect type 3|Inborn genetic diseases
- rs138911653Uncertain significancesingle nucleotide variantFatal mitochondrial disease due to combined oxidative phosphorylation defect type 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.