Variant (rsID / SNP)
rs121912666
rs121912666 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,190. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578190
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
- Allele change
- Missense_Y88S
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Squamous cell lung carcinoma|Renal cell carcinoma, papillary, 1|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Small cell lung carcinoma|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Neoplasm of the large intestine|Papillary renal cell carcinoma, sporadic|Glioblastoma|Gastric adenocarcinoma|Neoplasm of brain|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.