{{Rsnum
|rsid=121917901
|Chromosome=10
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ERCC6
|position=49478437
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ERCC6
}}{{omim
|id=609413
|rsnum=121917901
|variant=0002
}}{{ClinVar
|rsid=121917901
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=50686483
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ERCC6:2074
|GENE_NAME=ERCC6
|GENE_ID=2074
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.50686483G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609413.0002
|CLNSIG=5
|CLNCUI=C0751038; C0265201
|CLNDBN=Cockayne syndrome, type B; De Sanctis-Cacchione syndrome
|Disease=Cockayne syndrome; De Sanctis-Cacchione syndrome
|CLNACC=RCV000001769.2; RCV000001770.2
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1342:C0751038:133540:191; C0265201:278800:414673004
}}