{{Rsnum
|rsid=267606961
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POMGNT1
|position=46192212
|Gene_s=POMGNT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000004203.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
|CLNHGVS=NC_000001.11:g.46192212C>T
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001243766.1:c.1425G>A; 606822.0012
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|FwdALT=A
|FwdREF=G
|GENEINFO=POMGNT1:55624
|GENE_ID=55624
|GENE_NAME=POMGNT1
|REF=C
|RSPOS=46192212
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000605000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=267606961
|CLNORIGIN=1
}}