rs376344575
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
Hypertrophic Cardiomyopathy
0.010
GeneticVariation
BEFREE
Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A ;p.Gly245Arg ) in one patient with fatal infantile HCM .
21931170
2011
rs387906958
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
Hypertrophic Cardiomyopathy
0.010
GeneticVariation
BEFREE
Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T ;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM .
21931170
2011
rs376344575
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
0.800
GeneticVariation
UNIPROT
rs376344575
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
T
0.800
CausalMutation
CLINVAR
rs387906956
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
G
0.800
CausalMutation
CLINVAR
rs387906956
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
0.800
GeneticVariation
UNIPROT
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
21931170
2011
rs387906956
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
0.800
GeneticVariation
UNIPROT
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
17557076
2007
rs387906957
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
0.800
GeneticVariation
UNIPROT
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
17557076
2007
rs387906957
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
0.800
GeneticVariation
UNIPROT
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
21931170
2011
rs387906957
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
C
0.800
CausalMutation
CLINVAR
rs387906958
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
0.800
GeneticVariation
UNIPROT
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
17557076
2007
rs387906958
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
0.800
GeneticVariation
UNIPROT
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
21931170
2011
rs387906958
×
Entrez Id:
51103
Gene Symbol:
NDUFAF1
NDUFAF1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
A
0.800
CausalMutation
CLINVAR