Variant: rs776031396 

    present in Gene: FANCI;POLG
    present in Chromosome: 15
    Position on Chromosome: 89317492
    Alleles of this Variant: G/A;T

rs776031396 in FANCI;POLG gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 PMID 17846414 2007 Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

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

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

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

PMID 15351195 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

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

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