{{Rsnum
|rsid=137852895
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GNPTAB
|position=101770085
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=607840
|variant=0002
|rsnum=137852895
}}{{ClinVar
|rsid=137852895
|Reversed=1
|FwdREF=A
|FwdALT=C,G
|REF=T
|ALT=C,G
|RSPOS=102163863
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=GNPTAB:79158
|GENE_NAME=GNPTAB
|GENE_ID=79158
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000012.11:g.102163863T>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1875; 607840.0002
|CLNSIG=5
|CLNCUI=C0033788
|CLNDBN=Pseudo-Hurler polydystrophy
|Disease=Pseudo-Hurler polydystrophy
|CLNACC=RCV000002889.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1828:NBK1875:C0033788:252600:577:65764006
}}{{PMID Auto
|PMID=16094673
|Title=Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
}}