NDUFS3 Chromosome 11
NADH:ubiquinone oxidoreductase core subunit S3
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What This Gene Does
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase core subunits
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000213619
Associated Conditions (8)
Leigh syndrome
Mitochondrial complex I deficiency
nuclear type 1
nuclear type 8
NDUFS3-related disorder
Gastric cancer
Inborn genetic diseases
Neurodevelopmental delay
Key Variants
RS11039306
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS117981655
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS138867882
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 8, Mitochondrial complex I deficiency
Health Risk
RS141187412
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS148331180
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS3740654
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS377323760
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS770306617
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS77113494
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 8, nuclear type 1
Health Risk
RS778409332
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2509726477
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2509732182
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 8, Mitochondrial complex I deficiency
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11039306 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS117981655 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS138867882 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 8, Mitochondrial complex I deficiency |
| RS141187412 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS148331180 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS3740654 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS377323760 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1 |
| RS770306617 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome |
| RS77113494 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 8, nuclear type 1 |
| RS778409332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2509726477 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2509732182 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 8, Mitochondrial complex I deficiency |
| RS863224106 | Health Risk | Likely pathogenic | — |
| RS2153795389 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2509726707 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS863224107 | Health Risk | Pathogenic | — |
| RS104894270 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 8, Mitochondrial complex I deficiency |
| RS28939714 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 8, Neurodevelopmental delay |