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rs398124511

From SNPedia

ClinVar
Risk rs398124511(AGCCGCGGCCGCGGCCGCCGCGGC;AGCCGCGGCCGCGGCCGCCGCGGC)
Alt rs398124511(AGCCGCGGCCGCGGCCGCCGCGGC;AGCCGCGGCCGCGGCCGCCGCGGC)
Reference Rs398124511(-;-)
Significance Pathogenic
Disease not provided Lissencephaly 2 Mental retardation
Variation info
Gene ARX
CLNDBN not provided Lissencephaly 2, X-linked Mental retardation, with or without seizures, ARX-related, X-linked
Reversed 1
HGVS NC_000023.10:g.25031648_25031671dup24
CLNSRC HGMD
CLNACC RCV000082605.4, RCV000192670.2, RCV000348945.1,