{{Rsnum
|rsid=1800067
|Gene=ERCC4
|Chromosome=16
|position=13935176
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.03122
|Gene_s=ERCC4,UBE2S
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 8.0 | 91.2
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 3.5 | 96.5
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 5.9 | 94.1
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 8.6 | 91.4
| MKK | 0.0 | 9.6 | 90.4
| TSI | 0.0 | 16.7 | 83.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=1800067
|allele=A
|frequency=0.05
|uid=1103645432813
|type=heterozygous_SNP
|hugo=ERCC4
|ensembl gene=ENSG00000175595
|ensembl transcript=ENST00000311895
|sift=TOLERATED
|disease=Defects in ERCC4 are the cause of xeroderma pigmentosum, complementation group F (XP-F) (MIM:278760); also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.
}}

{{PMID Auto
|PMID=20150366
|Title=DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
|OA=1
}}

{{PMID Auto
|PMID=22768293
|Title=Association between XPF Polymorphisms and Cancer Risk: A Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=17299578
|Title=Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18544627
|Title=Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
|OA=1
}}

{{PMID Auto
|PMID=18701435
|Title=Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18709642
|Title=Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
|OA=1
}}

{{PMID Auto
|PMID=18767034
|Title=Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
|OA=1
}}

{{PMID Auto
|PMID=18990748
|Title=International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
|OA=1
}}

{{PMID Auto
|PMID=19029193
|Title=Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19124519
|Title=DNA repair gene variants associated with benign breast disease in high cancer risk women.
|OA=1
}}

{{PMID Auto
|PMID=19252927
|Title=Bladder cancer SNP panel predicts susceptibility and survival.
|OA=1
}}

{{PMID Auto
|PMID=19318433
|Title=Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L.
|OA=1
}}

{{PMID Auto
|PMID=21423097
|Title=Polymorphisms of the DNA repair genes XRCC1 and ERCC4 are not associated with smoking- and drinking-dependent larynx cancer in a Polish population.
}}

{{GET Evidence
|gene=ERCC4
|aa_change=Arg415Gln
|aa_change_short=R415Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800067
|overall_frequency_n=589
|overall_frequency_d=10758
|overall_frequency=0.05475
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=1.0
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=22848636
|Title=Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck.
|OA=1
}}

{{PMID Auto
|PMID=24036326
|Title=Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal
}}

{{PMID Auto
|PMID=24938470
|Title=Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}