{{Rsnum
|rsid=193919335
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POMGNT1
|position=46190473
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193919335
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=46190473
|CHROM=1
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060000a05000002110100
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.46190473C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNACC=RCV000004195.1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.1649G>A; 606822.0003
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
}}