{{Rsnum
|rsid=121912998
|Gene=DSP
|Chromosome=6
|position=7542003
|Orientation=plus
|GMAF=0.001837
|Gene_s=DSP,LOC100505880
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=125647
|rsnum=121912998
|variant=0011
}}{{ClinVar
|rsid=121912998
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=7542236
|CHROM=6
|GMAF=0.0018
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050068000000040016110100
|GENEINFO=DSP:1832
|GENE_NAME=DSP
|GENE_ID=1832
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.7542236G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=125647.0011
|CLNSIG=5
|CLNCUI=C1843896
|CLNDBN=Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic right ventricular cardiomyopathy; AllHighlyPenetrant
|Disease=Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; AllHighlyPenetrant
|CLNACC=RCV000018340.26; RCV000029685.1; RCV000038118.1
|Tags=PM;PMC;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001837
|CLNDSDB=GeneReviews:MedGen:OMIM; GeneReviews:MedGen:SNOMED_CT:SNOMED_CT; MedGen
|CLNDSDBID=NBK1131:C1843896:607450; NBK1131:C0349788:253528005:281170005; CN169374
|COMMON=0
}}{{PMID Auto
|PMID=17499
|Title=Renal tubular acidosis.
}}

{{PMID Auto
|PMID=16917092
|Title=Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
}}

{{PMID Auto
|PMID=18382419
|Title=Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|OA=1
}}

{{PMID Auto
|PMID=19178614
|Title=Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.
}}

{{PMID Auto
|PMID=19892887
|Title=Animal models of arrhythmogenic cardiomyopathy.
|OA=1
}}

{{PMID Auto
|PMID=20152563
|Title=Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
|OA=1
}}