{{Rsnum
|rsid=34159654
|Gene=GNPTAB
|Chromosome=12
|position=101830666
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=GNPTAB
}}{{omim
|id=607840
|rsnum=34159654
|variant=0014
}}

{{ClinVar
|rsid=34159654
|Reversed=1
|FwdREF=A
|FwdALT=C
|REF=T
|ALT=G
|RSPOS=102224444
|CHROM=12
|GMAF=0.0005
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050168000000040116110100
|GENEINFO=GNPTAB:79158
|GENE_NAME=GNPTAB
|GENE_ID=79158
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.102224444T>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1875; 607840.0014
|CLNSIG=5
|CLNCUI=C0033788
|CLNDBN=Pseudo-Hurler polydystrophy; Mucopolysaccharidosis, MPS-III-A
|Disease=Pseudo-Hurler polydystrophy; Mucopolysaccharidosis
|CLNACC=RCV000002903.1; RCV000031965.2
|Tags=RV;PM;PMC;SLO;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1828:NBK1875:C0033788:252600:577:65764006; NBK1875:C0086647:252900:581:41572006
|COMMON=0
}}

{{PMID Auto
|PMID=16465621
|Title=Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
|OA=1
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}