RS144181978 DGUOK
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What This Variant Does
"CLNSIG=5
Associated Conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 4
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder
Portal hypertension
noncirrhotic
1
Autosomal recessive DGUOK-related disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 4
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder
Portal hypertension
Other Variants in DGUOK