RS138929605 POLG

Health Risk Chr 15:89330105 snv missense variant

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What This Variant Does

"CLNSIG=4

Associated Conditions

Progressive sclerosing poliodystrophy

Mitochondrial DNA depletion syndrome

Mitochondrial DNA depletion syndrome 4b

Hereditary spastic paraplegia

Tip-toe gait

Inborn genetic diseases

Progressive external ophthalmoplegia with mitochondrial DNA deletions

autosomal dominant 1

autosomal recessive 1

Sensory ataxic neuropathy

dysarthria

and ophthalmoparesis

6 conditions

Sarcoma

Lung cancer

Population Frequencies

gnomAD ALL

1kG AFR

100%

1kG ALL

100%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.1%

1kG SAS

100%

Other Variants in POLG