{{Rsnum
|rsid=119477054
|Chromosome=15
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=UBR1
|position=43082648
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=UBR1
}}{{omim
|id=605981
|rsnum=119477054
|variant=0001
}}{{ClinVar
|rsid=119477054
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=43374846
|CHROM=15
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=UBR1:197131
|GENE_NAME=UBR1
|GENE_ID=197131
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.43374846T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605981.0001
|CLNSIG=5
|CLNCUI=C0175692
|CLNDBN=Johanson-Blizzard syndrome
|Disease=Johanson-Blizzard syndrome
|CLNACC=RCV000004942.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0175692:243800:2315:75979009
}}