rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
BEFREE
Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere.
16909392
2006
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
BEFREE
In addition, a homozygous p.R50Q mutation has been identified in patients with Navajo neurohepatopathy .
20074988
2010
rs140992482
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
Sensorimotor neuropathy
0.010
GeneticVariation
BEFREE
Recently, two patients with juvenile-onset peripheral sensorimotor neuropathy associated with an MVP17 c.122G>A (p.Arg41Gln ) variant have been reported.
30298599
2019
rs140992482
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
Sensorimotor neuropathy
0.010
GeneticVariation
BEFREE
Recently, two patients with juvenile-onset peripheral sensorimotor neuropathy associated with an MVP17 c.122G>A (p.Arg41Gln) variant have been reported.
30298599
2019
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
T
0.820
CausalMutation
CLINVAR
rs121909722
MPV17;UCN
NAVAJO NEUROHEPATOPATHY
T
0.800
CausalMutation
CLINVAR
rs121909723
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.
25016221
2014
rs267607256
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
C
0.800
CausalMutation
CLINVAR
rs267607257
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
G
0.800
CausalMutation
CLINVAR
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
27536553
2016
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.
25861990
2015
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26741492
2016
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
22508010
2012
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
29282788
2018
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
Mitochondrial DNA depletion syndrome causing liver failure.
25129007
2014
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
20074988
2010
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
24190800
2014
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
23714749
2014
rs267607259
MPV17;UCN
NAVAJO NEUROHEPATOPATHY
T
0.800
CausalMutation
CLINVAR
rs267607260
MPV17;UCN
NAVAJO NEUROHEPATOPATHY
A
0.800
GeneticVariation
CLINVAR
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
19520594
2009
rs267607260
MPV17;UCN
NAVAJO NEUROHEPATOPATHY
A
0.800
CausalMutation
CLINVAR
rs375401970
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
C
0.800
GeneticVariation
CLINVAR
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
23829229
2014
rs375401970
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
C
0.800
GeneticVariation
CLINVAR
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
23714749
2014
rs886044113
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
A
0.800
GeneticVariation
CLINVAR
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
29282788
2018
rs1057524366
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
C
0.700
GeneticVariation
CLINVAR
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
29282788
2018