Gene entry
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
- Chromosome
- 5
- Cytoband
- 5q12.1
- Variants (rsID)
- 12
ERCC8 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q12.1). Its official name is “ERCC excision repair 8, CSA ubiquitin ligase complex subunit”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs4647088Benignsingle nucleotide variantCockayne syndrome type 1
- rs121434325Conflicting interpretationssingle nucleotide variantCockayne syndrome type 1
- rs121434326Conflicting interpretationssingle nucleotide variantCockayne syndrome type 1
- rs61754098Conflicting interpretationssingle nucleotide variantCockayne syndrome type 1|Hereditary breast ovarian cancer syndrome
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.