{{Rsnum
|rsid=4253208
|Gene=ERCC6
|Chromosome=10
|position=49470676
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.008724
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ERCC6
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 93.7 | 6.3 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=COCKAYNE SYNDROME, TYPE B
|id=609413
|rsnum=4253208
|variant=0008
}}

{{ClinVar
|rsid=4253208
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=50678722
|CHROM=10
|GMAF=0.0087
|dbSNPBuildID=111
|SSR=0
|SAO=1
|VP=0x05016000000004051f110100
|GENEINFO=ERCC6:2074
|GENE_NAME=ERCC6
|GENE_ID=2074
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.50678722G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609413.0008
|CLNSIG=5
|CLNCUI=C0751038
|CLNDBN=Cockayne syndrome, type B
|Disease=Cockayne syndrome
|CLNACC=RCV000001776.2
|Tags=RV;PM;SLO;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9913; 0.008724
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1342:C0751038:133540:191
|COMMON=1
}}

{{GET Evidence
|gene=ERCC6
|aa_change=Pro1095Arg
|aa_change_short=P1095R
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs4253208
|overall_frequency_n=145
|overall_frequency_d=10758
|overall_frequency=0.0134783
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=5
|qualityscore_treatability=1
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=5
|webscore=N
|n_web_uneval=3
|summary_short=This variant is implicated in causing Cockayne Syndrome in a recessive manner. Although other variants in this gene cause this disease, the only observations supporting this variant is its presence in a single case: a black patient compound heterozygous with a frameshift mutation (and an irrelevant stop codon mutation) on the other allele.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}