Gene entry
TWNK
twinkle mtDNA helicase
- Chromosome
- 10
- Cytoband
- 10q24.31
- Variants (rsID)
- 9
TWNK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q24.31). Its official name is “twinkle mtDNA helicase”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs17113613Benignsingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|Infantile onset spinocerebellar ataxia|Autosomal recessive cerebellar ataxia|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Hereditary spastic paraplegia
- rs116046810Conflicting interpretationssingle nucleotide variantSensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Infantile onset spinocerebellar ataxia|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|Autosomal recessive cerebellar ataxia
- rs369223258Conflicting interpretationssingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions|Mitochondrial DNA depletion syndrome|Ataxia Neuropathy Spectrum Disorders|Autosomal recessive cerebellar ataxia|Infantile onset spinocerebellar ataxia|Hereditary spastic paraplegia
- rs61871507Conflicting interpretationssingle nucleotide variantSensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Infantile onset spinocerebellar ataxia|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|Autosomal recessive cerebellar ataxia|Hereditary spastic paraplegia
- rs386834146Pathogenicsingle nucleotide variantInfantile onset spinocerebellar ataxia
- rs80356540Pathogenicsingle nucleotide variantInfantile onset spinocerebellar ataxia
- rs386834145Uncertain significancesingle nucleotide variantInfantile onset spinocerebellar ataxia
- rs386834147Uncertain significancesingle nucleotide variantInfantile onset spinocerebellar ataxia
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.