{{Rsnum
|rsid=386834039
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=POMGNT1
|position=46193874
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000050023.1; RCV000081807.1
|CLNALLE=1
|CLNDBN=Muscle eye brain disease; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1291:C0457133:253280:ORPHA588:ORPHA899:277950001
|CLNHGVS=NC_000001.11:g.46193874G>A
|CLNSIG=5
|Disease=Muscle eye brain disease; not provided
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=46193874
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000605000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=386834039
|CLNSRC=ClinVar; Emory University
|CLNSRCID=NM_001243766.1:c.931C>T; 9744
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|CLNORIGIN=1
}}{{PMID Auto
|PMID=17030669
|Title=POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
}}

{{PMID Auto
|PMID=22554691
|Title=Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
|OA=1
}}