{{Rsnum
|rsid=137852502
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=HPRT1
|position=134475201
|Gene_s=HPRT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=308000
|variant=0054
|rsnum=137852502
}}{{ClinVar
|rsid=137852502
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=133609231
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=HPRT1:3251
|GENE_NAME=HPRT1
|GENE_ID=3251
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.133609231A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=308000.0054
|CLNSIG=255
|CLNCUI=C0268117
|CLNDBN=Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; HPRT EDINBURGH
|Disease=Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; HPRT EDINBURGH
|CLNACC=RCV000010787.3; RCV000010788.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0268117:300323:79233:238007004
}}