{{Rsnum
|rsid=137853161
|Chromosome=8
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PLEC
|position=143920817
|Gene_s=PLEC
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=601282
|variant=0009
|rsnum=137853161
}}{{ClinVar
|ALT=A
|CHROM=8
|CLNACC=RCV000008755.1
|CLNALLE=1
|CLNDBN=Epidermolysis bullosa simplex with pyloric atresia
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2677349:612138:158684
|CLNHGVS=NC_000008.10:g.144994985G>A
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601282.0009
|Disease=Epidermolysis bullosa simplex with pyloric atresia
|FwdALT=T
|FwdREF=C
|GENEINFO=PLEC:5339
|GENE_ID=5339
|GENE_NAME=PLEC
|REF=G
|RSPOS=144994985
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=133
|rsid=137853161
}}