Variant: rs121918052 

    present in Gene: MIR6766;POLG
    present in Chromosome: 15
    Position on Chromosome: 89327006
    Alleles of this Variant: C/G;T

rs121918052 in MIR6766;POLG gene and Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID 16919951 2006 SANDO: two novel mutations in POLG1 gene.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

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

PMID 16080118 2005 Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

PMID 26942291 2016 PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

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

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

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

PMID 14745080 2004 POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.