{{Rsnum
|rsid=193919336
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POMGNT1
|position=46193873
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193919336
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=46193873
|CHROM=1
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050268000a05000002110100
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.46193873C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNACC=RCV000004200.1; RCV000049989.1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3; Muscle eye brain disease
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1291:C0457133:253280:ORPHA588:ORPHA899:277950001
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.932G>A; 606822.0008
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies; Muscle eye brain disease
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
}}{{PMID Auto
|PMID=15236414
|Title=POMGnT1 gene alterations in a family with neurological abnormalities.
}}

{{PMID Auto
|PMID=17559086
|Title=Molecular heterogeneity in fetal forms of type II lissencephaly.
}}

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