{{Rsnum
|rsid=80338756
|Chromosome=8
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PLEC
|position=143924012
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PLEC
}}{{omim
|id=601282
|rsnum=80338756
|variant=0005
}}{{PMID Auto
|PMID=11851880
|Title=A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.
}}

{{PMID Auto
|PMID=15206692
|Title=Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.
}}{{ClinVar
|ALT=A
|CHROM=8
|CLNACC=RCV000008751.2
|CLNALLE=1
|CLNDBN=Epidermolysis bullosa simplex, Ogna type
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1157:C0432317:131950:79401:398071000
|CLNHGVS=NC_000008.10:g.144998180G>A
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1157; 601282.0005
|Disease=Epidermolysis bullosa simplex
|FwdALT=T
|FwdREF=C
|GENEINFO=PLEC:5339
|GENE_ID=5339
|GENE_NAME=PLEC
|REF=G
|RSPOS=144998180
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=131
|rsid=80338756
}}