Gene entry
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3
- Chromosome
- 19
- Cytoband
- 19q13.32
- Variants (rsID)
- 13
OPA3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.32). Its official name is “outer mitochondrial membrane lipid metabolism regulator OPA3”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs4802261Benignsingle nucleotide variantOptic atrophy 3|3-Methylglutaconic aciduria type 3
- rs73568973Benignsingle nucleotide variant3-Methylglutaconic aciduria type 3|Optic atrophy 3
- rs140959406Conflicting interpretationssingle nucleotide variant3-Methylglutaconic aciduria type 3|3-Methylglutaconic aciduria type 3|Optic atrophy 3
- rs74717111Conflicting interpretationssingle nucleotide variant3-Methylglutaconic aciduria type 3|Optic atrophy 3
- rs80356523Pathogenicsingle nucleotide variant3-Methylglutaconic aciduria type 3|3-Methylglutaconic aciduria type 3|Optic atrophy 3
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
