{{Rsnum
|rsid=386834038
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POMGNT1
|position=46194269
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A,T
|CHROM=1
|CLNACC=RCV000050022.1; RCV000050021.1
|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.46194269C>A; NC_000001.11:g.46194269C>T
|CLNSIG=4
|Disease=Muscle eye brain disease
|FwdALT=A,T
|FwdREF=G
|REF=C
|RSPOS=46194269
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;INT;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068080005000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=386834038
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|CLNORIGIN=0
|CLNSRC=ClinVar
|CLNSRCID=NM_001243766.1:c.879+5G>T; NM_001243766.1:c.879+5G>A
}}{{PMID Auto
|PMID=15466003
|Title=POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
|OA=1
}}