{{Rsnum
|rsid = 28942068
|Gene=POMGNT1
|geno1 = (C;C)
|geno2 = (C;G)
|geno3 = (G;G)
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|Chromosome=1
|position=46192159
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=POMGNT1
}}{{omim
|desc=MUSCLE-EYE-BRAIN DISEASE
|id=606822
|rsnum=28942068
|variant=0005
}}{{ClinVar
|rsid=28942068
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=46192159
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=POMGNT1:55624
|GENE_NAME=POMGNT1
|GENE_ID=55624
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.46192159G>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNACC=RCV000004197.1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.1478C>G; 606822.0005
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
}}