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
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
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
25286830 2014
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
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
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)
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
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
18828154 2009
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
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
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
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)
0.840
GeneticVariation
UNIPROT
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
15689359 2005
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
UNIPROT
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711 2004
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
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686 2001
rs113994097
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Alpers Syndrome (disorder)
0.830
GeneticVariation
UNIPROT
Mitochondrial DNA depletion syndrome causing liver failure.
25129007 2014
rs113994097
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Alpers Syndrome (disorder)
G
0.830
GeneticVariation
CLINVAR
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
22931735 2012
rs113994097
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Alpers Syndrome (disorder)
G
0.830
CausalMutation
CLINVAR
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
21880868 2011
rs113994097
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Alpers Syndrome (disorder)
0.830
GeneticVariation
BEFREE
The p.W748S POLG gene mutation was revealed in 2 children, the only ones in the cohort who fulfilled the AHS criteria.
21455106 2011
rs113994097
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Alpers Syndrome (disorder)
G
0.830
GeneticVariation
CLINVAR
Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
20153822 2010
rs113994097
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Alpers Syndrome (disorder)
0.830
GeneticVariation
UNIPROT
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
18828154 2009
rs113994097
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Alpers Syndrome (disorder)
0.830
GeneticVariation
BEFREE
The W748S POLG1 mutation seems to lead to tissue-specific, partial mtDNA depletion in patients with juvenile-onset Alpers syndrome .
18294203 2008