Gene entry
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
- Chromosome
- 16
- Cytoband
- 16p13.12
- Variants (rsID)
- 25
ERCC4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.12). Its official name is “ERCC excision repair 4, endonuclease catalytic subunit”. The reference table lists 25 variants (rsID) for this gene.
Clinically classified variants
18 reference-table entries with clinical significance.
- rs113403633Benignsingle nucleotide variantXeroderma pigmentosum, group F
- rs16963255Benignsingle nucleotide variantXeroderma pigmentosum, group F|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q
- rs1799801Benignsingle nucleotide variantXeroderma pigmentosum, group F|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q|XFE progeroid syndrome|Fanconi anemia complementation group Q
- rs1800067Benignsingle nucleotide variantXeroderma pigmentosum, group F|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome
- rs1800124Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F
- rs201181735Benignsingle nucleotide variantXeroderma pigmentosum, group F|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum
- rs2020953Benignsingle nucleotide variantFanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum, group F
- rs3136042Benignsingle nucleotide variantFanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum, group F
- rs3136056Benignsingle nucleotide variantXeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F
- rs3136225Benignsingle nucleotide variantXeroderma pigmentosum, group F|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q|Xeroderma pigmentosum
- rs4781563Benignsingle nucleotide variantXeroderma pigmentosum, group F
- rs121913049Conflicting interpretationssingle nucleotide variantXeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum, group F|Fanconi anemia complementation group Q|XFE progeroid syndrome|Xeroderma pigmentosum, group F|Fanconi anemia complementation group Q|XFE progeroid syndrome|Hutchinson-Gilford syndrome|Breast carcinoma|Carcinoma of pancreas|Fanconi anemia complementation group Q|Xeroderma pigmentosum
- rs146601373Conflicting interpretationssingle nucleotide variantFanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Hutchinson-Gilford syndrome|Xeroderma pigmentosum, group F|Xeroderma pigmentosum
- rs1799802Conflicting interpretationssingle nucleotide variantFanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum, group F|Xeroderma pigmentosum
- rs4986933Conflicting interpretationssingle nucleotide variantFanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Xeroderma pigmentosum, group F|Hutchinson-Gilford syndrome|Xeroderma pigmentosum
- rs149364215Likely pathogenicsingle nucleotide variantFanconi anemia complementation group Q|Xeroderma pigmentosum, group F|Cockayne syndrome|Fanconi anemia complementation group Q
- rs121913050Pathogenicsingle nucleotide variantXFE progeroid syndrome
- rs145315496Uncertain significancesingle nucleotide variantFanconi anemia complementation group Q|Cockayne syndrome|Xeroderma pigmentosum, group F|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.