{{Rsnum
|rsid=121912774
|Chromosome=10
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL17A1
|position=104072062
|Gene_s=COL17A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=113811
|rsnum=121912774
|variant=0014
}}{{ClinVar
|rsid=121912774
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=105831820
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL17A1:1308
|GENE_NAME=COL17A1
|GENE_ID=1308
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.105831820G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=113811.0014
|CLNSIG=5
|CLNCUI=C0268374
|CLNDBN=Adult junctional epidermolysis bullosa
|Disease=Adult junctional epidermolysis bullosa
|CLNACC=RCV000019226.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1125:NBK1304:C0268374:226650:251393:79402:79405:89840:33662006
}}