COQ9 Chromosome 16
Coenzyme Q9
Upload your DNA to see your personal genotypes for variants in COQ9.
What This Gene Does
This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
Associated Conditions (5)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
COQ9-related disorder
Inborn genetic diseases
Leigh syndrome
Lung cancer
Key Variants
RS11547480
Conflicting classifications of pathogenicity
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, COQ9-related disorder, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Health Risk
RS1189201208
Conflicting classifications of pathogenicity
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Health Risk
RS1276732246
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS181356497
Conflicting classifications of pathogenicity
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Health Risk
RS201097286
Conflicting classifications of pathogenicity
Health Risk
RS201238241
Conflicting classifications of pathogenicity
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Health Risk
RS536567108
Conflicting classifications of pathogenicity
Health Risk
RS536847466
Conflicting classifications of pathogenicity
Health Risk
RS547254482
Conflicting classifications of pathogenicity
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Health Risk
RS578214371
Conflicting classifications of pathogenicity
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Health Risk
RS750827513
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757251412
Conflicting classifications of pathogenicity
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Inborn genetic diseases, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11547480 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, COQ9-related disorder, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS1189201208 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS1276732246 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS181356497 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS201097286 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201238241 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS536567108 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS536847466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS547254482 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS578214371 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS750827513 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757251412 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Inborn genetic diseases, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS757816546 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS758943543 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Inborn genetic diseases, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS76508383 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, COQ9-related disorder, Leigh syndrome |
| RS747898678 | Health Risk | Likely pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS752219939 | Health Risk | Likely pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Lung cancer, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS1160280040 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1491334480 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS2030153941 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS2146591222 | Health Risk | Pathogenic | — |
| RS2543566429 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS2543573817 | Health Risk | Pathogenic | — |
| RS267606751 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS368777580 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS746155423 | Health Risk | Pathogenic | — |
| RS751556970 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS755558659 | Health Risk | Pathogenic | — |
| RS759658215 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS770175074 | Health Risk | Pathogenic | — |
| RS786205897 | Health Risk | Pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |