Variant (rsID / SNP)
rs11540652
rs11540652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,538. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577538
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
- Allele change
- Missense_R116Q
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Sarcoma|Li-Fraumeni syndrome|Acute myeloid leukemia|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Breast neoplasm|Small cell lung carcinoma|Neoplasm|Neoplasm of the large intestine|Multiple myeloma|Transitional cell carcinoma of the bladder|Medulloblastoma|Prostate adenocarcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Gastric adenocarcinoma|Carcinoma of esophagus|Brainstem glioma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Myelodysplastic syndrome|Malignant neoplasm of body of uterus|Glioblastoma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Lung adenocarcinoma|11 conditions|Neoplasm of ovary|Lymphoma|Lip and oral cavity carcinoma|Rhabdomyosarcoma|Familial cancer of breast|Ductal carcinoma in situ|Breast carcinoma|Colorectal cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.