{{Rsnum
|rsid=398122940
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=DES
|position=219425661
|Gene_s=DES
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=2
|CLNACC=RCV000050215.27
|CLNALLE=1
|CLNDBN=MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R (1 family)
|CLNHGVS=NC_000002.11:g.220290383A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=125660.0018
|Disease=MUSCULAR DYSTROPHY
|FwdALT=G
|FwdREF=A
|GENEINFO=DES:1674
|GENE_ID=1674
|GENE_NAME=DES
|REF=A
|RSPOS=220290383
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=138
|rsid=398122940
}}