RS181860632 POLG
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What This Variant Does
"CLNSIG=255
Associated Conditions
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
autosomal dominant 1
Inborn genetic diseases
Spinocerebellar ataxia with epilepsy
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Mitochondrial DNA depletion syndrome
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
6 conditions
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Other Variants in POLG