Variant (rsID / SNP)
rs587782329
rs587782329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,535. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577535
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.746G>A (p.Arg249Lys)
- Allele change
- Missense_R117M
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Uterine carcinosarcoma|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Medulloblastoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Li-Fraumeni 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.