{{Rsnum
|rsid=138642840
|Gene=POMGNT1
|Chromosome=1
|position=46192097
|Orientation=plus
|GMAF=0.0009183
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=A,T
|CAF=0.9991; 0.0009183
|CHROM=1
|CLNACC=RCV000049996.1; RCV000049995.1
|CLNALLE=1; 2
|CLNDBN=Muscle eye brain disease
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1291:C0457133:253280:ORPHA588:ORPHA899:277950001
|CLNHGVS=NC_000001.11:g.46192097C>A; NC_000001.11:g.46192097C>T
|CLNSIG=5
|COMMON=1
|Disease=Muscle eye brain disease
|FwdALT=A,T
|FwdREF=C
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|REF=C
|RSPOS=46192097
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;DSS;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068100005040016110100
|WGT=1
|dbSNPBuildID=134
|rsid=138642840
|CLNORIGIN=0
|CLNSRC=ClinVar
|CLNSRCID=NM_001243766.1:c.1539+1G>T; NM_001243766.1:c.1539+1G>A
}}{{PMID Auto
|PMID=11709191
|Title=Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
}}

{{PMID Auto
|PMID=12588800
|Title=Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
}}

{{PMID Auto
|PMID=17559086
|Title=Molecular heterogeneity in fetal forms of type II lissencephaly.
}}

{{PMID Auto
|PMID=17878207
|Title=Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
}}

{{PMID Auto
|PMID=17906881
|Title=Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
}}

{{PMID Auto
|PMID=15466003
|Title=POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
|OA=1
}}

{{PMID Auto
|PMID=17881266
|Title=Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
}}