Variant (rsID / SNP)
rs28934575
rs28934575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,548. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577548
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
- Allele change
- Missense_G113C
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Uterine carcinosarcoma|Breast neoplasm|Lung adenocarcinoma|Glioblastoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Neoplasm of brain|Squamous cell lung carcinoma|Carcinoma of esophagus|Neoplasm of the large intestine|Hepatocellular carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.