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rs863225424

From SNPedia

ClinVar
Risk rs863225424(CTCAGCAC;CTCAGCAC)
Alt rs863225424(CTCAGCAC;CTCAGCAC)
Reference rs863225424(;)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ITPA
CLNDBN Epileptic encephalopathy, early infantile, 35
Reversed 0
HGVS NC_000020.10:g.3199226_3199233dupTCAGCACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000202316.2,