{{Rsnum
|rsid=137852899
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GNPTAB
|position=101764236
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=607840
|variant=0007
|rsnum=137852899
}}{{ClinVar
|rsid=137852899
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=102158014
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=GNPTAB:79158
|GENE_NAME=GNPTAB
|GENE_ID=79158
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.102158014C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1828; NBK1875; 607840.0007
|CLNSIG=5
|CLNCUI=C2673377
|CLNDBN=I cell disease
|Disease=I cell disease
|CLNACC=RCV000002895.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576
}}{{PMID Auto
|PMID=16116615
|Title=Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
}}