{{Rsnum
|rsid=142172397
|position=101764932
|Chromosome=12
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=plus
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000031970.2
|CLNALLE=1
|CLNDBN=Pseudo-Hurler polydystrophy
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1828:NBK1875:C0033788:252600:577:65764006
|CLNHGVS=NC_000012.11:g.102158710G>C
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1875
|Disease=Pseudo-Hurler polydystrophy
|FwdALT=C
|FwdREF=G
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
|REF=G
|RSPOS=102158710
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=142172397
}}{{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.
}}