OPA3 Chromosome 19
Outer mitochondrial membrane lipid metabolism regulator OPA3
Upload your DNA to see your personal genotypes for variants in OPA3.
What This Gene Does
The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Associated Conditions (6)
3-Methylglutaconic aciduria type 3
Optic atrophy 3
OPA3-related disorder
Inborn genetic diseases
Achromatopsia
See cases
Key Variants
RS116977551
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3
Health Risk
RS1250409781
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3
Health Risk
RS1278896715
Conflicting classifications of pathogenicity
Optic atrophy 3, 3-Methylglutaconic aciduria type 3, Optic atrophy 3
Health Risk
RS137978109
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 3, Optic atrophy 3, OPA3-related disorder
Health Risk
RS138449967
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3
Health Risk
RS139606810
Conflicting classifications of pathogenicity
Optic atrophy 3, 3-Methylglutaconic aciduria type 3, Optic atrophy 3
Health Risk
RS139731330
Conflicting classifications of pathogenicity
Optic atrophy 3, 3-Methylglutaconic aciduria type 3, Optic atrophy 3
Health Risk
RS139757997
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3
Health Risk
RS139798464
Conflicting classifications of pathogenicity
Optic atrophy 3, 3-Methylglutaconic aciduria type 3, Optic atrophy 3
Health Risk
RS140959406
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3
Health Risk
RS141446737
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3
Health Risk
RS142898530
Conflicting classifications of pathogenicity
Optic atrophy 3, 3-Methylglutaconic aciduria type 3, Optic atrophy 3
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760083523 | Health Risk | Conflicting classifications of pathogenicity | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, Achromatopsia |
| RS763083098 | Health Risk | Conflicting classifications of pathogenicity | Optic atrophy 3, 3-Methylglutaconic aciduria type 3, OPA3-related disorder |
| RS767372876 | Health Risk | Conflicting classifications of pathogenicity | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS76825983 | Health Risk | Conflicting classifications of pathogenicity | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS774281852 | Health Risk | Conflicting classifications of pathogenicity | Optic atrophy 3, 3-Methylglutaconic aciduria type 3, Optic atrophy 3 |
| RS80356525 | Health Risk | Conflicting classifications of pathogenicity | Optic atrophy 3, 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1057516497 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1225701554 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS1230629432 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS1241537518 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1357831556 | Health Risk | Likely pathogenic | — |
| RS1466115591 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1475568526 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1555730159 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS1555736791 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS1555736793 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1555736803 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1555736814 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2122440638 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2501240893 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2513823606 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2513824298 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2513861253 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS747890876 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS886037828 | Health Risk | Likely pathogenic | Optic atrophy 3, Optic atrophy 3 |
| RS1969382362 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS1969907819 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2513861191 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS80356523 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS80356524 | Health Risk | Pathogenic | Optic atrophy 3, Optic atrophy 3 |
| RS80356526 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS1568413644 | Health Risk | Pathogenic/Likely pathogenic | 3-Methylglutaconic aciduria type 3, Optic atrophy 3, 3-Methylglutaconic aciduria type 3 |
| RS28937899 | Health Risk | Pathogenic/Likely pathogenic | 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |