rs267606959
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Abnormal behavior
A
0.700
CausalMutation
CLINVAR
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
20142534
2010
rs267606959
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Abnormal behavior
A
0.700
CausalMutation
CLINVAR
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
20883824
2011
rs267606959
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Abnormality of the pancreas
A
0.700
CausalMutation
CLINVAR
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
20883824
2011
rs267606959
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Abnormality of the pancreas
A
0.700
CausalMutation
CLINVAR
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
20142534
2010
rs2307449
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Age at menopause
G
0.800
GeneticVariation
GWASCAT
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
22267201
2012
rs2307449
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Age at menopause
G
0.800
GeneticVariation
GWASDB
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
22267201
2012
rs1054875
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Age at menopause
T
0.700
GeneticVariation
GWASCAT
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
26414677
2015
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
BEFREE
These transcripts were subsequently removed through nonsense-mediated decay, leading to haplotype insufficiency due to expression of the A467T allele and decreased expression of the c.2157+5_+6 gc-->ag allele, which is likely responsible for the Alpers syndrome phenotype.
19501198
2009
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
T
0.840
CausalMutation
CLINVAR
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
15917273
2005
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
UNIPROT
POLG mutations and Alpers syndrome.
15929042
2005
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
T
0.840
CausalMutation
CLINVAR
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686
2001
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
T
0.840
CausalMutation
CLINVAR
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
20691285
2011
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
UNIPROT
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
16639411
2006
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
BEFREE
We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome ).
21235791
2011
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
UNIPROT
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
15689359
2005
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
UNIPROT
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711
2004
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
T
0.840
CausalMutation
CLINVAR
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
16024923
2005
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
BEFREE
Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.
18783964
2009
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
UNIPROT
Mitochondrial DNA depletion syndrome causing liver failure.
25129007
2014
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
T
0.840
CausalMutation
CLINVAR
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711
2004
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
T
0.840
CausalMutation
CLINVAR
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
25286830
2014
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
BEFREE
We observed reduced incorporation of exogenous alpha (32)P-dTTP in fibroblasts from a patient with Alpers syndrome associated with the A467T substitution in POLG, a patient with dGK mutations, and a patient with mtDNA depletion of unknown origin compared to controls.
17483096
2007
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
UNIPROT
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
18828154
2009
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
0.840
GeneticVariation
UNIPROT
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
16621917
2006
rs113994095
POLG;MIR6766
Alpers Syndrome (disorder)
T
0.840
CausalMutation
CLINVAR
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
26735972
2016