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rs587777212

From SNPedia

ClinVar
Risk rs587777212(;)
Alt rs587777212(;)
Reference rs587777212(GGGGGGCGCGGGGCCGCCG;GGGGGGCGCGGGGCCGCCG)
Significance Pathogenic
Disease N-acetylaspartate deficiency
Variation info
Gene NAT8L
CLNDBN N-acetylaspartate deficiency
Reversed 0
HGVS NC_000004.11:g.2061450_2061468del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000088670.3,