Variant (rsID / SNP)
rs1057519980
rs1057519980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,402. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578402
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
- Allele change
- Missense_C44W
Associated conditions / phenotypes
Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Renal cell carcinoma, papillary, 1|Neoplasm of brain|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Hepatocellular carcinoma|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Breast neoplasm|Acute myeloid leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.