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rs752902474

From SNPedia

ClinVar
Risk
Alt
Reference Rs752902474(GGGGTCAGGGGAGGAGG;GGGGTCAGGGGAGGAGG)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 10
Variation info
Gene PNKP
CLNDBN Early infantile epileptic encephalopathy 10
Reversed 0
HGVS NC_000019.9:g.50364800_50364816del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000194165.2,