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rs863223949

From SNPedia

ClinVar
Risk rs863223949(;)
Alt rs863223949(;)
Reference rs863223949(AG;AG)
Significance Pathogenic
Disease not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions Mitochondrial DNA-depletion syndrome 3
Variation info
Gene DGUOK
CLNDBN not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed 0
HGVS NC_000002.11:g.74184265_74184266delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000196566.2, RCV000239503.1, RCV000239539.1,