RS80356530 OPA1
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What This Variant Does
"aka c.2708_2711delTTAG (p.Val903Glyfs) [OMIM:?]
Associated Conditions
Autosomal dominant optic atrophy classic form
Abortive cerebellar ataxia
Mitochondrial disease
Retinal dystrophy
Optic atrophy with or without deafness
ophthalmoplegia
myopathy
ataxia
and neuropathy
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Glaucoma
normal tension
susceptibility to
Tip-toe gait
OPA1-related disorder
Other Variants in OPA1