{{Rsnum
|rsid=267606962
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=POMGNT1
|position=46189539
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G,T
|CHROM=1
|CLNACC=RCV000004205.1; RCV000050002.1
|CLNALLE=1; 2
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Muscle eye brain disease
|CLNDSDB=MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C3150412:613151; NBK1291:C0457133:253280:ORPHA588:ORPHA899:277950001
|CLNHGVS=NC_000001.11:g.46189539C>G; NC_000001.11:g.46189539C>T
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.1814G>C; 606822.0014; NM_001243766.1:c.1814G>A
|Disease=Congenital muscular dystrophy-dystroglycanopathy with mental retardation; Muscle eye brain disease
|FwdALT=A,C
|FwdREF=G
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|REF=C
|RSPOS=46189539
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000a05000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=267606962
|CLNORIGIN=1; 0
}}{{PMID Auto
|PMID=17906881
|Title=Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
}}

{{PMID Auto
|PMID=20215985
|Title=Muscle-Eye-Brain disease.
|OA=1
}}