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rs587784365

From SNPedia

ClinVar
Risk rs587784365(GGGTCGCCATCGACAAC;GGGTCGCCATCGACAAC)
Alt rs587784365(GGGTCGCCATCGACAAC;GGGTCGCCATCGACAAC)
Reference rs587784365(;)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 10 Ataxia-oculomotor apraxia 4 not provided
Variation info
Gene PNKP
CLNDBN Early infantile epileptic encephalopathy 10 Ataxia-oculomotor apraxia 4 not provided
Reversed 1
HGVS NC_000019.9:g.50365058_50365074dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000005120.5, RCV000167521.4, RCV000188471.1,