Variant: rs113994096 

    present in Gene: POLG
    present in Chromosome: 15
    Position on Chromosome: 89325639
    Alleles of this Variant: G/A

rs113994096 in POLG gene and Alpers Syndrome (disorder) PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 23665194 2013 The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.

PMID 15689359 2005 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

PMID 20513108 2010 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.

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

PMID 15929042 2005 POLG mutations and Alpers syndrome.

PMID 25129007 2014 Mitochondrial DNA depletion syndrome causing liver failure.

PMID 18828154 2009 Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

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.

rs113994096 in POLG gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) PMID 19307547 2009 Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

PMID 12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

rs113994096 in POLG gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs113994096 in POLG gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

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

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

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

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

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

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

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

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

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

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

PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

rs113994096 in POLG gene and Seizures PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

PMID 12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

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

PMID 20513108 2010 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.

PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

PMID 19578034 2009 The unfolding clinical spectrum of POLG mutations.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.