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rs587777148

From SNPedia

ClinVar
Risk rs587777148(ACCGACCACATCTGCAGA;ACCGACCACATCTGCAGA)
Alt rs587777148(ACCGACCACATCTGCAGA;ACCGACCACATCTGCAGA)
Reference rs587777148(;)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KPTN
CLNDBN Mental retardation, autosomal recessive 41
Reversed 0
HGVS NC_000019.9:g.47983176_47983193dup18
CLNSRC OMIM Allelic Variant
CLNACC RCV000087080.6,