RS113994095 POLG
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What This Variant Does
"rs113994095, also known as c.1399G>
Associated Conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
autosomal dominant 1
POLG-related disorder
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Neurodevelopmental delay
Hereditary spastic paraplegia
Inborn genetic diseases
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
100%
Other Variants in POLG