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rs797044963

From SNPedia

ClinVar
Risk rs797044963(;)
Alt rs797044963(;)
Reference rs797044963(AC;AC)
Significance Pathogenic
Disease intellectual disability with severe speech impairment Mental retardation
Variation info
Gene CHAMP1
CLNDBN intellectual disability with severe speech impairment Mental retardation, autosomal dominant 40
Reversed 0
HGVS NC_000013.10:g.115091183_115091184delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000190454.1, RCV000192000.2,