{{Rsnum
|rsid=80338731
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PRPS1
|position=107639301
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PRPS1
}}{{omim
|id=311850
|rsnum=80338731
|variant=0009
}}{{ClinVar
|rsid=80338731
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=106882531
|CHROM=X
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=PRPS1:5631
|GENE_NAME=PRPS1
|GENE_ID=5631
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.106882531A>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1876; 311850.0009
|CLNSIG=5
|CLNCUI=C1839566; C1839566
|CLNDBN=Charcot-Marie-Tooth disease, X-linked recessive, type 5
|Disease=Charcot-Marie-Tooth disease
|CLNACC=RCV000010612.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1358:NBK1876:C1839566:311070
}}{{PMID Auto
|PMID=17701900
|Title=Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
|OA=1
}}