RS139469785 AFG3L2

Health Risk Chr 18:12337348 snv missense variant
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What This Variant Does
"CLNSIG=4
Associated Conditions
Spinocerebellar ataxia type 28
Spastic ataxia 5
Inborn genetic diseases
Optic atrophy 12
Spinocerebellar ataxia type 28
Spastic ataxia 5
Inborn genetic diseases
Optic atrophy 12
Population Frequencies
gnomAD ALL
100%
Other Variants in AFG3L2
rs151344520 rs151344519 rs151344521 rs151344523 rs151344512 rs151344514 rs151344515 rs151344517 rs387906889 rs151344513
Ask Dr. Hemsworth about this variant