{{Rsnum
|rsid=190285831
|Gene=POMT2
|Chromosome=14
|position=77288777
|Orientation=plus
|GMAF=0.0004591
|Gene_s=POMT2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=G
|CAF=0.9995; 0.0004591
|CHROM=14
|CLNACC=RCV000003381.1; RCV000081563.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1291:C3150411:613150:588:899
|CLNHGVS=NC_000014.8:g.77755120C>G
|CLNSIG=5
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=14274; 607439.0007
|COMMON=0
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies; not provided
|FwdALT=G
|FwdREF=C
|GENEINFO=POMT2:29954
|GENE_ID=29954
|GENE_NAME=POMT2
|REF=C
|RSPOS=77755120
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000016110100
|WGT=0
|dbSNPBuildID=135
|rsid=190285831
}}