{{Rsnum
|rsid=121908675
|Chromosome=22
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=LARGE
|position=33304434
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LARGE
}}{{omim
|id=603590
|rsnum=121908675
|variant=0001
}}{{ClinVar
|rsid=121908675
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=33700420
|CHROM=22
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=LARGE:9215
|GENE_NAME=LARGE
|GENE_ID=9215
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.33700420C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603590.0001
|CLNSIG=5
|CLNCUI=C1837229
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
|Disease=Congenital muscular dystrophy-dystroglycanopathy with mental retardation
|CLNACC=RCV000006594.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1291:C1837229:608840
}}