{{Rsnum
|rsid=121913004
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=DES
|position=219421482
|Gene_s=DES
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=125660
|rsnum=121913004
|variant=0011
}}{{ClinVar
|rsid=121913004
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=220286204
|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.220286204A>C
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=DES:c.1166A>C; 125660.0011
|CLNSIG=5
|CLNCUI=C1832370
|CLNDBN=Myofibrillar myopathy 1; not provided
|Disease=Myofibrillar myopathy 1; not provided
|CLNACC=RCV000018324.22; RCV000056776.1
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:OMIM
|CLNDSDBID=NBK1131:NBK1499:C1832370:601419:609160
}}