{{Rsnum
|rsid=387906802
|Chromosome=8
|position=143923055
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PLEC
|Gene_s=PLEC
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=8
|CLNACC=RCV000023092.2
|CLNALLE=1
|CLNDBN=Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1856936:226670:257
|CLNHGVS=NC_000008.10:g.144997223G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601282.0013
|Disease=Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=144997223
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906802
|GENEINFO=PLEC:5339
|GENE_ID=5339
|GENE_NAME=PLEC
}}