{{Rsnum
|rsid=386834025
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=POMGNT1
|position=46189358
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000050008.1
|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.46189358C>G
|CLNSIG=4
|Disease=Muscle eye brain disease
|FwdALT=C
|FwdREF=G
|REF=C
|RSPOS=46189358
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;ASS;INT;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068280005000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=386834025
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|CLNORIGIN=0
|CLNSRC=ClinVar
|CLNSRCID=NM_001243766.1:c.1870-1G>C
}}{{PMID Auto
|PMID=21983716
|Title=[Clinical and mutation analysis of a Chinese family with muscle eye brain disease].
}}