{{Rsnum
|rsid=281865016
|position=101757254
|Chromosome=12
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=A
|CHROM=12
|CLNACC=RCV000032361.1
|CLNALLE=1
|CLNDBN=I cell disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
|CLNHGVS=NC_000012.11:g.102151032G>A
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1828
|Disease=I cell disease
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=102151032
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281865016
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=19197337
|Title=Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
}}