RS794727405 OPA1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Optic atrophy with or without deafness
ophthalmoplegia
myopathy
ataxia
and neuropathy
Autosomal dominant optic atrophy classic form
Abortive cerebellar ataxia
Glaucoma
normal tension
susceptibility to
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Optic atrophy with or without deafness
ophthalmoplegia
myopathy
ataxia
Other Variants in OPA1