{{Rsnum
|rsid=398123021
|Chromosome=12
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AG)
|geno3=(AG;AG)
|Gene=UBE3B
|position=109521294
|Gene_s=UBE3B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=12
|CLNACC=RCV000043488.2
|CLNALLE=1
|CLNDBN=Blepharophimosis-ptosis-intellectual disability syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN169377:615057:329255
|CLNHGVS=NC_000012.11:g.109959099_109959100delAG
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608047.0002
|Disease=Blepharophimosis-ptosis-intellectual disability syndrome
|FwdREF=AG
|GENEINFO=UBE3B:89910
|GENE_ID=89910
|GENE_NAME=UBE3B
|REF=AAG
|RSPOS=109959094
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=138
|rsid=398123021
}}