{{Rsnum
|rsid=121434324
|Chromosome=5
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ERCC8
|position=60944972
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ERCC8,NDUFAF2
}}{{omim
|id=609412
|rsnum=121434324
|variant=0003
}}{{ClinVar
|rsid=121434324
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=60240799
|CHROM=5
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=NDUFAF2:91942; ERCC8:1161
|GENE_NAME=NDUFAF2; ERCC8
|GENE_ID=91942; 1161
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.60240799C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609412.0003
|CLNSIG=5
|CLNCUI=C0751039
|CLNDBN=Cockayne syndrome type A
|Disease=Cockayne syndrome type A
|CLNACC=RCV000001786.2
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1342:C0751039:216400:191:21086008
}}