{{Rsnum
|rsid=281865018
|position=101753528
|Chromosome=12
|Orientation=minus
|geno1=(-;-)
|geno2=(-;TTTG)
|geno3=(TTTG;TTTG)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=G
|CHROM=12
|CLNACC=RCV000032340.1
|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.102147306_102147309delCAAA
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1828
|Disease=Pseudo-Hurler polydystrophy
|FwdREF=TTTG
|REF=GCAAA
|RSPOS=102147305
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=281865018
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=19634183
|Title=Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
}}