RS113994098 POLG
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What This Variant Does
"rs113994098, also known as c.2542G>
Associated Conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
digenic
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder
autosomal dominant 1
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Hereditary spastic paraplegia
Mitochondrial disease
Inborn genetic diseases
Mitochondrial DNA depletion syndrome
6 conditions
Other Variants in POLG