Variant (rsID / SNP)
rs148924904
rs148924904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,442. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578442
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)
- Allele change
- Missense_Y31C
Associated conditions / phenotypes
Hepatocellular carcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Small cell lung carcinoma|Breast neoplasm|Uterine carcinosarcoma|Malignant melanoma of skin|Pancreatic adenocarcinoma|Lung adenocarcinoma|Brainstem glioma|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.