Variant (rsID / SNP)
rs121912651
rs121912651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,539. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577539
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
- Allele change
- Missense_R116W
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Acute myeloid leukemia|Lung adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Small cell lung carcinoma|B-cell chronic lymphocytic leukemia|Brainstem glioma|Ovarian serous cystadenocarcinoma|Myelodysplastic syndrome|Prostate adenocarcinoma|Carcinoma of esophagus|Gastric adenocarcinoma|Multiple myeloma|Uterine carcinosarcoma|Breast neoplasm|Squamous cell lung carcinoma|Hepatocellular carcinoma|Neoplasm|Neoplasm of brain|Transitional cell carcinoma of the bladder|Medulloblastoma|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Malignant melanoma of skin|Pancreatic adenocarcinoma|7 conditions|Neoplasm of ovary|Lip and oral cavity carcinoma|Choroid plexus carcinoma|Gallbladder cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.