RS113994097 POLG
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What This Variant Does
"rs113994097, also known as c.2243G>
Associated Conditions
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
POLG-related disorder
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
6 conditions
Acute rhabdomyolysis
autosomal recessive 1
Sensory ataxic neuropathy
Other Variants in POLG