Variant: rs1131691575 

    present in Gene: POLG;FANCI
    present in Chromosome: 15
    Position on Chromosome: 89317469
    Alleles of this Variant: C/T

rs1131691575 in POLG;FANCI gene and Alpers Syndrome (disorder) PMID 20185557 2010 mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

PMID 16957900 2007 Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

PMID 19578034 2009 The unfolding clinical spectrum of POLG mutations.

PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

rs1131691575 in POLG;FANCI gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs1131691575 in POLG;FANCI gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

PMID 14635118 2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

PMID 15349879 2004 Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 12872260 2003 Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

PMID 16634032 2006 Early-onset familial parkinsonism due to POLG mutations.

PMID 12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 12975295 2003 Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

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