{{Rsnum
|rsid=281865029
|position=101764342
|Orientation=minus
|Chromosome=12
|geno1=(-;-)
|geno2=(-;GA)
|geno3=(GA;GA)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000002897.1; RCV000031974.2
|CLNALLE=1
|CLNDBN=I cell disease; Pseudo-Hurler polydystrophy
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576; NBK1828:NBK1875:C0033788:252600:577:65764006
|CLNHGVS=NC_000012.11:g.102158120_102158121delTC
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1875; 607840.0009
|Disease=I cell disease; Pseudo-Hurler polydystrophy
|FwdREF=GA
|REF=TTC
|RSPOS=102158119
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=281865029
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=16116615
|Title=Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
}}