Variant (rsID / SNP)
rs28934573
rs28934573 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,559. Clinical significance in the table: Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577559
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
- Allele change
- Missense_S109F
Associated conditions / phenotypes
Bone osteosarcoma|Hepatoblastoma|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Non-Hodgkin lymphoma|Brainstem glioma|Carcinoma of esophagus|Breast neoplasm|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Neoplasm of brain|Malignant neoplasm of body of uterus|Glioblastoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Gallbladder carcinoma|Ovarian serous cystadenocarcinoma|Renal cell carcinoma, papillary, 1|Li-Fraumeni syndrome|Neoplasm of ovary|Lip and oral cavity carcinoma|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.