{{Rsnum
|rsid=121913028
|Chromosome=19
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=ERCC1
|position=45414870
|Gene_s=ERCC1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=126380
|rsnum=121913028
|variant=0002
}}{{ClinVar
|rsid=121913028
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=45918128
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=ERCC1:2067
|GENE_NAME=ERCC1
|GENE_ID=2067
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.45918128G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=126380.0002
|CLNSIG=5
|CLNCUI=C1853100
|CLNDBN=Cerebrooculofacioskeletal syndrome 4
|Disease=Cerebrooculofacioskeletal syndrome 4
|CLNACC=RCV000018266.27
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1853100:610758:1466
}}