NDUFS7 Chromosome 19
NADH:ubiquinone oxidoreductase core subunit S7
Upload your DNA to see your personal genotypes for variants in NDUFS7.
What This Gene Does
This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase core subunits
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000115286
Associated Conditions (6)
Mitochondrial complex I deficiency
nuclear type 1
Leigh syndrome
nuclear type 3
NDUFS7-related disorder
Inborn genetic diseases
Key Variants
RS11551664
Conflicting classifications of pathogenicity
Health Risk
RS140236960
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS144570086
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS147710123
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS201222388
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS370241999
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency
Health Risk
RS371666279
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency
Health Risk
RS375120743
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS376025020
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS552179138
Conflicting classifications of pathogenicity
NDUFS7-related disorder, NDUFS7-related disorder
Health Risk
RS565395435
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS573586959
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11551664 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140236960 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS144570086 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS147710123 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS201222388 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS370241999 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS371666279 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS375120743 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS376025020 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS552179138 | Health Risk | Conflicting classifications of pathogenicity | NDUFS7-related disorder, NDUFS7-related disorder |
| RS565395435 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS573586959 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS757488156 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS757717527 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758518373 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 3 |
| RS762680917 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS767469432 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775718887 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS112687336 | Health Risk | Likely pathogenic | — |
| RS1171276645 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS1250874621 | Health Risk | Likely pathogenic | — |
| RS1268314487 | Health Risk | Likely pathogenic | — |
| RS1335401362 | Health Risk | Likely pathogenic | — |
| RS1568985256 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Leigh syndrome |
| RS1568992973 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS2082525102 | Health Risk | Likely pathogenic | — |
| RS2512206013 | Health Risk | Likely pathogenic | — |
| RS962096142 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS121434479 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS2512205352 | Health Risk | Pathogenic | — |
| RS768892512 | Health Risk | Pathogenic | — |
| RS863224113 | Health Risk | Pathogenic | — |
| RS104894705 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Leigh syndrome |
| RS2512210872 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |
| RS777504868 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 3, Mitochondrial complex I deficiency |