{{Rsnum
|rsid=121912853
|Gene=COL7A1
|Chromosome=3
|position=48566719
|Orientation=minus
|GMAF=0.0004591
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=120120
|rsnum=121912853
|variant=0038
}}{{ClinVar
|rsid=121912853
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=48604152
|CHROM=3
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000016110100
|GENEINFO=COL7A1:1294
|GENE_NAME=COL7A1
|GENE_ID=1294
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000003.11:g.48604152C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=120120.0038
|CLNSIG=5
|CLNCUI=C0079474
|CLNDBN=Recessive dystrophic epidermolysis bullosa
|Disease=Recessive dystrophic epidermolysis bullosa
|CLNACC=RCV000019011.22
|Tags=RV;PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591; .
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1304:C0079474:226600:79408:79409:48528004
|COMMON=0
}}