Variant (rsID / SNP)
rs121912655
rs121912655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,556. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577556
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
- Allele change
- Missense_C110Y
Associated conditions / phenotypes
Li-Fraumeni-like syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Gastric adenocarcinoma|Squamous cell lung carcinoma|Transitional cell carcinoma of the bladder|B-cell chronic lymphocytic leukemia|Lung adenocarcinoma|Uterine carcinosarcoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Breast neoplasm|Glioblastoma|Carcinoma of esophagus|Neoplasm of ovary|Familial cancer of breast|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.