{{Rsnum
|rsid=121913024
|Chromosome=19
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ERCC2
|position=45352802
|Gene_s=ERCC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=126340
|rsnum=121913024
|variant=0010
}}{{ClinVar
|rsid=121913024
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=45856060
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=ERCC2:2068
|GENE_NAME=ERCC2
|GENE_ID=2068
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.45856060G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=126340.0010
|CLNSIG=5
|CLNCUI=C0220722; C0268138
|CLNDBN=Cerebro-oculo-facio-skeletal syndrome; Xeroderma pigmentosum, group D
|Disease=Cerebro-oculo-facio-skeletal syndrome; Xeroderma pigmentosum
|CLNACC=RCV000018278.26; RCV000018279.22
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0220722:214150:1466:41283003; NBK1397:C0268138:278730:68637004
}}