Variant (rsID / SNP)
rs587782082
rs587782082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,536. 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
- 17:7577536
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
- Allele change
- Missense_R117G
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Small cell lung carcinoma|Carcinoma of esophagus|Uterine carcinosarcoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the skin|Hepatocellular carcinoma|Gastric adenocarcinoma|Squamous cell lung carcinoma|Acute myeloid leukemia|Glioblastoma|Medulloblastoma|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.