Gene entry
OPA1
OPA1 mitochondrial dynamin like GTPase
- Chromosome
- 3
- Cytoband
- 3q29
- Variants (rsID)
- 27
OPA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q29). Its official name is “OPA1 mitochondrial dynamin like GTPase”. The reference table lists 27 variants (rsID) for this gene.
Clinically classified variants
19 reference-table entries with clinical significance.
- rs1056392Benignsingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs115569671Benignsingle nucleotide variant
- rs115575058Benignsingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs139861334Benignsingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs34307082Benignsingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs78767626Benignsingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs143319805Conflicting interpretationssingle nucleotide variantAutosomal dominant optic atrophy classic form|Abortive cerebellar ataxia|Optic nerve hypoplasia|Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|Autosomal dominant optic atrophy classic form|Abortive cerebellar ataxia|Inborn genetic diseases
- rs143929819Conflicting interpretationssingle nucleotide variant
- rs148047706Conflicting interpretationssingle nucleotide variant
- rs201520438Conflicting interpretationssingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs35630194Conflicting interpretationssingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs371943802Conflicting interpretationssingle nucleotide variant
- rs104893753Pathogenicsingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs121908375Pathogenicsingle nucleotide variantAutosomal dominant optic atrophy classic form|Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- rs80356529Pathogenicsingle nucleotide variantOptic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|Mitochondrial disease
- rs863225277Pathogenicsingle nucleotide variantAutosomal dominant optic atrophy classic form
- rs886041317Pathogenicsingle nucleotide variant
- rs200412464Uncertain significancesingle nucleotide variant
- rs368488165Uncertain significancesingle nucleotide variant
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.