{{Rsnum
|rsid=398123020
|Chromosome=12
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=UBE3B
|position=109509716
|Gene_s=UBE3B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000043487.2
|CLNALLE=1
|CLNDBN=Blepharophimosis-ptosis-intellectual disability syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN169377:615057:329255
|CLNHGVS=NC_000012.11:g.109947521T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608047.0001
|Disease=Blepharophimosis-ptosis-intellectual disability syndrome
|FwdALT=C
|FwdREF=T
|GENEINFO=UBE3B:89910
|GENE_ID=89910
|GENE_NAME=UBE3B
|REF=T
|RSPOS=109947521
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398123020
}}