Variant: rs386834145 

    present in Gene: TWNK
    present in Chromosome: 10
    Position on Chromosome: 100989766
    Alleles of this Variant: C/G

rs386834145 in TWNK gene and Infantile onset spinocerebellar ataxia PMID 16135556 2005 Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

PMID 17722119 2007 Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

PMID 17921179 2007 Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

PMID 19853444 2009 Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

PMID 22353293 2012 A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands.