Variant (rsID / SNP)
rs1057519976
rs1057519976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,525. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578525
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
- Allele change
- Missense_C3W
Associated conditions / phenotypes
Carcinoma of esophagus|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Prostate adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Adrenal cortex carcinoma|Neoplasm of brain|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.