{{Rsnum
|rsid=193919337
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=POMGNT1
|position=46197018
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193919337
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=46197018
|CHROM=1
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060400605000002110100
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.46197018G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;NSN;REF;U5;ASP;OTHERKG;LSD;OM
|CLNACC=RCV000004201.1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.187C>T; NM_001290130.1:c.-243C>T; 606822.0009
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
}}