{{Rsnum
|rsid=78347057
|Gene=GNPTAB
|Chromosome=12
|position=101796744
|Orientation=plus
|GMAF=0.0124
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=A,T
|CAF=0.9876; 0.0124
|CHROM=12
|CLNACC=RCV000032296.1
|CLNALLE=1
|CLNDBN=I cell disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
|CLNHGVS=NC_000012.11:g.102190522G>A
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1828
|COMMON=1
|Disease=I cell disease
|FwdALT=A,T
|FwdREF=G
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
|REF=G
|RSPOS=102190522
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000140516110100
|WGT=0
|dbSNPBuildID=131
|rsid=78347057
}}{{PMID Auto
|PMID=19617216
|Title=Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
|OA=1
}}