RS398124303 OPA1

Health Risk Chr 3:193638064
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal dominant optic atrophy classic form
Optic atrophy with or without deafness
ophthalmoplegia
myopathy
ataxia
and neuropathy
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Autosomal dominant optic atrophy classic form
Optic atrophy with or without deafness
ophthalmoplegia
myopathy
ataxia
and neuropathy
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Other Variants in OPA1
rs28939082 rs879255510 rs80356530 rs879255560 rs121908375 rs104893753 rs879255511 rs879255512 rs80356531 rs121908376
Ask Dr. Hemsworth about this variant