{{Rsnum
|rsid=386834023
|Chromosome=1
|Orientation=minus
|geno1=(-;-)
|geno2=(-;GTGA)
|geno3=(GTGA;GTGA)
|Gene=POMGNT1
|position=46189454
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000050007.1
|CLNALLE=1
|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.46189454_46189457delTCAC
|CLNSIG=4
|Disease=Muscle eye brain disease
|FwdREF=GTGA
|REF=GTCAC
|RSPOS=46189449
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;DSS;INT;ASP;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068180005000002110200
|WGT=1
|dbSNPBuildID=137
|rsid=386834023
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|CLNORIGIN=0
}}{{PMID Auto
|PMID=15466003
|Title=POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
|OA=1
}}