{{Rsnum
|rsid=58687088
|Chromosome=2
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AAC)
|geno3=(AAC;AAC)
|Gene=DES
|position=219421412
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DES,LOC100288941
}}{{omim
|id=125660
|rsnum=58687088
|variant=0013
}}{{ClinVar
|rsid=58687088
|Reversed=0
|FwdREF=AAC
|FwdALT=
|REF=CAAC
|ALT=C
|RSPOS=220286133
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000002110200
|GENEINFO=DES:1674
|GENE_NAME=DES
|GENE_ID=1674
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.220286134_220286136delAAC
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=DES:c.1096_1098delAAC; 125660.0013
|CLNSIG=5
|CLNCUI=C1832370
|CLNDBN=Myofibrillar myopathy 1; not provided
|Disease=Myofibrillar myopathy 1; not provided
|CLNACC=RCV000018326.22; RCV000056771.1
|Tags=PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:OMIM
|CLNDSDBID=NBK1131:NBK1499:C1832370:601419:609160
}}