{{Rsnum
|rsid=137852897
|Chromosome=12
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GNPTAB
|position=101753409
|Gene_s=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=607840
|variant=0004
|rsnum=137852897
}}{{ClinVar
|rsid=137852897
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=102147187
|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.102147187G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1828; NBK1875; 607840.0004
|CLNSIG=5
|CLNCUI=C2673377; C0033788
|CLNDBN=I cell disease; Pseudo-Hurler polydystrophy
|Disease=I cell disease; Pseudo-Hurler polydystrophy
|CLNACC=RCV000002891.1; RCV000002892.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|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
}}{{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.
}}

{{PMID Auto
|PMID=16630736
|Title=When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
}}