Variant (rsID / SNP)
rs11615
rs11615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC1. Location: chromosome 19, position 45,923,653. Clinical significance in the table: drug_response.
Reference-table entries
- Clinical significance (as recorded)
- drug_response
- Variant type
- synonymous_variant
- Chromosome / position
- 19:45923653
- HGVS
- NM_001369408.1,c.354T>C,p.Asn118Asn
- Allele change
- Synonymous_N118N
Associated conditions / phenotypes
Ovarian Cancer|Larynx Cancer|Cervical Cancer|Osteogenic Sarcoma|Gastric Cancer|Cataract|Senile Cataract|Xeroderma Pigmentosum, Variant Type|Lung Cancer|Colorectal Cancer|Xeroderma Pigmentosum, Complementation Group F|Esophageal Cancer|Neutropenia|Ovarian Epithelial Cancer|Breast Cancer|Xeroderma Pigmentosum, Complementation Group D|Thrombocytopenia|Lung Cancer Susceptibility 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.