{{Rsnum
|rsid=267607209
|Chromosome=22
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=LARGE
|position=33304476
|Gene_s=LARGE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=22
|CLNACC=RCV000006597.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C3150414:613154:588:899
|CLNHGVS=NC_000022.10:g.33700462A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=603590.0004
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|FwdALT=C
|FwdREF=T
|GENEINFO=LARGE:9215
|GENE_ID=9215
|GENE_NAME=LARGE
|REF=A
|RSPOS=33700462
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607209
}}