Variant (rsID / SNP)
rs3212986
rs3212986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR1G, ERCC1. Location: chromosome 19, position 45,912,736. Clinical significance in the table: drug_response.
Reference-table entries
- Clinical significance (as recorded)
- drug_response
- Variant type
- missense_variant
- Chromosome / position
- 19:45912736
- HGVS
- NM_001297590.3,c.1516C>A,p.Gln506Lys
- Allele change
- Missense_Q504K
Associated conditions / phenotypes
Glioma|Glial Tumor|Gastric Cancer|Esophageal Cancer|Larynx Cancer|Pre-Eclampsia|Cervical Cancer|Lung Cancer|Xeroderma Pigmentosum, Variant Type|Pancreatic Cancer|Colorectal Cancer|Ovarian Cancer|Osteogenic Sarcoma|Ovarian Epithelial Cancer|Xeroderma Pigmentosum, Complementation Group F|Neutropenia|Breast Cancer|Xeroderma Pigmentosum, Complementation Group D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.