{{Rsnum
|rsid=281864970
|position=101770518
|Orientation=minus
|Chromosome=12
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GNPTAB
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A,T
|CHROM=12
|CLNACC=RCV000032284.1; RCV000032283.1
|CLNALLE=1; 2
|CLNDBN=I cell disease; Pseudo-Hurler polydystrophy
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576; NBK1828:NBK1875:C0033788:252600:577:65764006
|CLNHGVS=NC_000012.11:g.102164296C>A; NC_000012.11:g.102164296C>T
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1828
|Disease=I cell disease; Pseudo-Hurler polydystrophy
|FwdALT=A,T
|FwdREF=G
|REF=C
|RSPOS=102164296
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281864970
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
}}{{PMID Auto
|PMID=19617216
|Title=Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
|OA=1
}}

{{PMID Auto
|PMID=19197337
|Title=Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
}}