×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
GeneticVariation
disease
BEFREE
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
29395179
2018
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
GeneticVariation
disease
BEFREE
Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser) ) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms.
29976978
2018
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
Biomarker
disease
GENOMICS_ENGLAND
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
26345448
2015
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
CausalMutation
disease
CLINVAR
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
26345448
2015
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
Biomarker
disease
GENOMICS_ENGLAND
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
23266820
2013
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
GeneticVariation
disease
CLINVAR
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
23562761
2013
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
GeneticVariation
disease
BEFREE
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
23266820
2013
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
GermlineCausalMutation
disease
ORPHANET
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
22644603
2012
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
GeneticVariation
disease
CLINVAR
Siblings with leukoencephalopathy.
19073330
2008
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
GeneticVariation
disease
BEFREE
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency .
11349233
2001
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
CausalMutation
disease
CLINVAR
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
10080174
1999
×
Entrez Id:
4723
Gene Symbol:
NDUFV1
NDUFV1
0.640
Biomarker
disease
GENOMICS_ENGLAND