Variant: rs121918055 

    present in Gene: POLG;MIR6766
    present in Chromosome: 15
    Position on Chromosome: 89326965
    Alleles of this Variant: C/T

rs121918055 in POLG;MIR6766 gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 PMID 15351195 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

PMID 11897778 2002 Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

PMID 17846414 2007 Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

PMID 18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

PMID 12210792 2002 Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

PMID 17420318 2007 Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

PMID 15534189 2004 A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.