{{Rsnum
|rsid=397516698
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=DES
|position=219420347
|Gene_s=DES
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=2
|CLNACC=RCV000037249.1
|CLNALLE=1
|CLNDBN=Myofibrillar myopathy 1
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:OMIM
|CLNDSDBID=NBK1131:NBK1499:C1832370:601419:609160
|CLNHGVS=NC_000002.11:g.220285069G>A
|CLNSIG=4
|Disease=Myofibrillar myopathy 1
|FwdALT=A
|FwdREF=G
|GENEINFO=DES:1674
|GENE_ID=1674
|GENE_NAME=DES
|REF=G
|RSPOS=220285069
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=397516698
}}