Gene entry
ERCC5
ERCC excision repair 5, endonuclease
- Chromosome
- 13
- Cytoband
- 13q33.1
- Variants (rsID)
- 13
ERCC5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q33.1). Its official name is “ERCC excision repair 5, endonuclease”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs1047768Benignsingle nucleotide variantXeroderma pigmentosum, group G
- rs1047769Benignsingle nucleotide variantXeroderma pigmentosum, group G
- rs17655Benignsingle nucleotide variantXeroderma pigmentosum, group G|Cerebrooculofacioskeletal syndrome 3
- rs34061299Benignsingle nucleotide variantXeroderma pigmentosum, group G|Hereditary cancer-predisposing syndrome
- rs751402Benignsingle nucleotide variantXeroderma pigmentosum, group G
- rs873601Benignsingle nucleotide variantXeroderma pigmentosum, group G
- rs9514067Benignsingle nucleotide variant
- rs121434576Uncertain significancesingle nucleotide variantXeroderma pigmentosum, group G
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.
