{{Rsnum
|rsid=121913020
|Chromosome=19
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ERCC2
|position=45368655
|Gene_s=ERCC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=126340
|rsnum=121913020
|variant=0006
}}{{ClinVar
|rsid=121913020
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=45871913
|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.45871913C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=126340.0006
|CLNSIG=5
|CLNCUI=C0740342; C0268138
|CLNDBN=BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome; Xeroderma pigmentosum, group D
|Disease=BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome; Xeroderma pigmentosum
|CLNACC=RCV000018273.22; RCV000018274.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:SNOMED_CT; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0740342:403796005; NBK1397:C0268138:278730:68637004
}}