{{Rsnum
|rsid=281864955
|position=101786143
|Chromosome=12
|Orientation=minus
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000032346.1
|CLNALLE=1
|CLNDBN=I cell disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
|CLNHGVS=NC_000012.11:g.102179921delG
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1828
|Disease=I cell disease
|FwdREF=C
|REF=TG
|RSPOS=102179919
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=281864955
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=19659762
|Title=Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
}}