{{Rsnum
|rsid=121918354
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PKP1
|position=201317635
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PKP1
}}{{omim
|id=601975
|rsnum=121918354
|variant=0001
}}{{ClinVar
|rsid=121918354
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=201317635
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000605000002110100
|GENEINFO=PKP1:5317
|GENE_NAME=PKP1
|GENE_ID=5317
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.201317635C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000299.3:c.910C>T; 601975.0001
|CLNSIG=5
|CLNCUI=C1858302
|CLNDBN=Ectodermal dysplasia skin fragility syndrome
|Disease=Ectodermal dysplasia skin fragility syndrome
|CLNACC=RCV000008041.1
|Tags=PM;S3D;NSN;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1858302:604536:ORPHA158668
}}