{{Rsnum
|rsid=121913001
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=DES
|position=219421494
|Gene_s=DES
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=125660
|rsnum=121913001
|variant=0003
}}{{ClinVar
|rsid=121913001
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=220286216
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=DES:1674
|GENE_NAME=DES
|GENE_ID=1674
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.220286216A>T
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=DES:c.[1078G>C\x3b1178A>T]; 125660.0003
|CLNSIG=5
|CLNCUI=C1832370
|CLNDBN=Myofibrillar myopathy 1; not provided
|Disease=Myofibrillar myopathy 1; not provided
|CLNACC=RCV000018316.26; RCV000056778.1
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:OMIM
|CLNDSDBID=NBK1131:NBK1499:C1832370:601419:609160
}}