{{Rsnum
|rsid=121913000
|Chromosome=2
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=DES
|position=219421394
|Gene_s=DES
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=125660
|rsnum=121913000
|variant=0002
}}{{ClinVar
|rsid=121913000
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=220286116
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=DES:1674
|GENE_NAME=DES
|GENE_ID=1674
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.220286116G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=125660.0002
|CLNSIG=5
|CLNCUI=C1832370
|CLNDBN=Myofibrillar myopathy 1
|Disease=Myofibrillar myopathy 1
|CLNACC=RCV000018315.22
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:OMIM
|CLNDSDBID=NBK1131:NBK1499:C1832370:601419:609160
}}