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rs863225447

From SNPedia

ClinVar
Risk rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)
Alt rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)
Reference rs863225447(;)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 1
HGVS NC_000017.10:g.6596421_6596431dupACTTTCTCCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000202392.1,