DHODH Chromosome 16
Dihydroorotate dehydrogenase (quinone)
Upload your DNA to see your personal genotypes for variants in DHODH.
What This Gene Does
The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
16q22.2
Ensembl
ENSG00000102967
Associated Conditions (3)
Miller syndrome
DHODH-related disorder
Inborn genetic diseases
Key Variants
RS149123373
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
RS192923495
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
RS199666119
Conflicting classifications of pathogenicity
Miller syndrome, DHODH-related disorder, Miller syndrome
Health Risk
RS200549060
Conflicting classifications of pathogenicity
Miller syndrome, Inborn genetic diseases, Miller syndrome
Health Risk
RS201023112
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
RS201202896
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
RS373893426
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
RS374538940
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
RS375174980
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS573177564
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
RS767012109
Conflicting classifications of pathogenicity
Miller syndrome, Inborn genetic diseases, Miller syndrome
Health Risk
RS770515591
Conflicting classifications of pathogenicity
Miller syndrome, Miller syndrome
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149123373 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS192923495 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS199666119 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, DHODH-related disorder, Miller syndrome |
| RS200549060 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Inborn genetic diseases, Miller syndrome |
| RS201023112 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS201202896 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS373893426 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS374538940 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS375174980 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS573177564 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS767012109 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Inborn genetic diseases, Miller syndrome |
| RS770515591 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, Miller syndrome |
| RS79673084 | Health Risk | Conflicting classifications of pathogenicity | Miller syndrome, DHODH-related disorder, Miller syndrome |
| RS1288171226 | Health Risk | Likely pathogenic | Miller syndrome, Miller syndrome |
| RS1215488320 | Health Risk | Pathogenic | Miller syndrome, Miller syndrome |
| RS2506981791 | Health Risk | Pathogenic | — |
| RS267606767 | Health Risk | Pathogenic | Miller syndrome, Miller syndrome, Miller syndrome |
| RS267606769 | Health Risk | Pathogenic | Miller syndrome, Miller syndrome |
| RS776973679 | Health Risk | Pathogenic | Miller syndrome, DHODH-related disorder, Miller syndrome |
| RS201230446 | Health Risk | Pathogenic/Likely pathogenic | Miller syndrome, Miller syndrome |
| RS201947120 | Health Risk | Pathogenic/Likely pathogenic | Miller syndrome, Miller syndrome |