NDUFAF3 Chromosome 3
NADH:ubiquinone oxidoreductase complex assembly factor 3
Upload your DNA to see your personal genotypes for variants in NDUFAF3.
What This Gene Does
This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000178057
Associated Conditions (7)
Mitochondrial complex I deficiency
nuclear type 1
Inborn genetic diseases
Malignant tumor of esophagus
NDUFAF3-related disorder
nuclear type 18
Ovarian serous cystadenocarcinoma
Key Variants
RS199504381
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS200576852
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS200789117
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Malignant tumor of esophagus
Health Risk
RS202104160
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFAF3-related disorder
Health Risk
RS368575094
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 18, Inborn genetic diseases
Health Risk
RS373060774
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS374825937
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS527954570
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS587781096
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Ovarian serous cystadenocarcinoma
Health Risk
RS746835381
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 18
Health Risk
RS752864722
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
Health Risk
RS756339822
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199504381 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases |
| RS200576852 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS200789117 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Malignant tumor of esophagus |
| RS202104160 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NDUFAF3-related disorder |
| RS368575094 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 18, Inborn genetic diseases |
| RS373060774 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases |
| RS374825937 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS527954570 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases |
| RS587781096 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Ovarian serous cystadenocarcinoma |
| RS746835381 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 18 |
| RS752864722 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, Mitochondrial complex I deficiency |
| RS756339822 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases |
| RS760652685 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS770941671 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS774901107 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS1064794835 | Health Risk | Likely pathogenic | — |
| RS138275059 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 18, Mitochondrial complex I deficiency |
| RS2106770574 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 18, Mitochondrial complex I deficiency |
| RS121918134 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 18, Mitochondrial complex I deficiency |
| RS121918135 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 18, Mitochondrial complex I deficiency |
| RS121918136 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 18, Mitochondrial complex I deficiency |
| RS1242685917 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 18, Mitochondrial complex I deficiency |
| RS762398743 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 18, Mitochondrial complex I deficiency |