{{Rsnum
|rsid=281864959
|position=101780579
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=G
|CHROM=12
|CLNACC=RCV000032362.1
|CLNALLE=1
|CLNDBN=I cell disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
|CLNHGVS=NC_000012.11:g.102174357T>G
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1828
|Disease=I cell disease
|FwdALT=C
|FwdREF=A
|REF=T
|RSPOS=102174357
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281864959
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=19938078
|Title=Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
}}