{{Rsnum
|rsid=387906723
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PORCN
|position=48516082
|Gene_s=PORCN
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=X
|CLNACC=RCV000022872.3
|CLNALLE=1
|CLNDBN=Focal dermal hypoplasia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1543:C0016395:305600:2092
|CLNHGVS=NC_000023.10:g.48374470G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300651.0005
|Disease=Focal dermal hypoplasia
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=48374470
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906723
|GENEINFO=PORCN:64840
|GENE_ID=64840
|GENE_NAME=PORCN
}}