Gene entry
MTRFR
mitochondrial translation release factor in rescue
- Chromosome
- 12
- Cytoband
- 12q24.31
- Variants (rsID)
- 3
MTRFR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.31). Its official name is “mitochondrial translation release factor in rescue”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs78651634Benignsingle nucleotide variantCombined oxidative phosphorylation defect type 7|Spastic paraplegia|Combined oxidative phosphorylation defect type 7|Hereditary spastic paraplegia
- rs147328685Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 7|Spastic paraplegia|Combined oxidative phosphorylation defect type 7|Hereditary spastic paraplegia
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.