{{Rsnum
|rsid=80356547
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=UBA1
|position=47206103
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=INE1,UBA1
}}{{omim
|id=314370
|rsnum=80356547
|variant=0003
}}{{ClinVar
|rsid=80356547
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=47065502
|CHROM=X
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=UBA1:7317; INE1:8552
|GENE_NAME=UBA1; INE1
|GENE_ID=7317; 8552
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.47065502C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK2594; 314370.0003
|CLNSIG=5
|CLNCUI=C1844934; C1844934
|CLNDBN=Arthrogryposis multiplex congenita, distal, X-linked
|Disease=Arthrogryposis multiplex congenita
|CLNACC=RCV000010436.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK2594:C1844934:301830:1145
}}{{PMID Auto
|PMID=18179898
|Title=Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
|OA=1
}}