Variant: rs138929605 

    present in Gene: POLG
    present in Chromosome: 15
    Position on Chromosome: 89330106
    Alleles of this Variant: T/A;C;G

rs138929605 in POLG gene and Alpers Syndrome (disorder) PMID 26095671 2015 The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.

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

PMID 22357363 2012 A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.

PMID 24508722 2014 Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

PMID 21301859 2011 Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

PMID 18487244 2008 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

PMID 22114710 2011 Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision.

rs138929605 in POLG gene and Depletion of mitochondrial DNA PMID 24508722 2014 Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

PMID 22357363 2012 A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.

PMID 22114710 2011 Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision.

PMID 25203713 2014 POLG1-related levodopa-responsive parkinsonism.

PMID 28337550 2017 "Common genetic etiology between ""multiple sclerosis-like"" single-gene disorders and familial multiple sclerosis."

PMID 22000311 2011 Alpers syndrome with mutations in POLG: clinical and investigative features.

PMID 21301859 2011 Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 18487244 2008 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

PMID 26095671 2015 The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.