{{Rsnum
|rsid=281865033
|position=101760133
|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=CG
|CHROM=12
|CLNACC=RCV000031978.2
|CLNALLE=1
|CLNDBN=I cell disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
|CLNHGVS=NC_000012.11:g.102153911_102153912insG
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1875
|Disease=I cell disease
|FwdALT=C
|REF=C
|RSPOS=102153911
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=281865033
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=16200072
|Title=Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
}}