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rs1057518777

From SNPedia
ClinVar
Risk rs1057518777(CTACATCTCATAC;CTACATCTCATAC)
Alt rs1057518777(CTACATCTCATAC;CTACATCTCATAC)
Reference Rs1057518777(-;-)
Significance Probable-Pathogenic
Disease Developmental delay Intellectual disability
Variation info
Gene UBE3A
CLNDBN Developmental delay Intellectual disability
Reversed 1
HGVS NC_000015.9:g.25584387_25584399dupGTATGAGATGTAG
CLNSRC
CLNACC RCV000414808.1,