{{Rsnum
|rsid=142065232
|position=101757236
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=plus
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000032337.1
|CLNALLE=1
|CLNDBN=I cell disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
|CLNHGVS=NC_000012.11:g.102151014A>T
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1828
|Disease=I cell disease
|FwdALT=T
|FwdREF=A
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
|REF=A
|RSPOS=102151014
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=134
|rsid=142065232
}}{{PMID Auto
|PMID=19617216
|Title=Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
|OA=1
}}