Variant (rsID / SNP)
rs28934574
rs28934574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,094. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577094
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
- Allele change
- Missense_R150W
Associated conditions / phenotypes
Li-Fraumeni-like syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Non-Hodgkin lymphoma|Malignant melanoma of skin|Glioblastoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Prostate adenocarcinoma|Squamous cell carcinoma of the skin|Neoplasm of the large intestine|Hepatocellular carcinoma|Breast neoplasm|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Renal cell carcinoma, papillary, 1|Malignant neoplasm of body of uterus|Neoplasm of brain|Astrocytoma, anaplastic|Pleomorphic xanthoastrocytoma|Neoplasm of ovary|Colorectal cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.