Variant (rsID / SNP)
rs138729528
rs138729528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,407. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578407
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
- Allele change
- Missense_R43G
Associated conditions / phenotypes
Pancreatic adenocarcinoma|Malignant melanoma of skin|Lung adenocarcinoma|Gastric adenocarcinoma|Medulloblastoma|Brainstem glioma|Glioblastoma|Prostate adenocarcinoma|Hepatocellular carcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Gallbladder carcinoma|Transitional cell carcinoma of the bladder|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Breast neoplasm|Neoplasm of brain|Carcinoma of esophagus|Nasopharyngeal neoplasm|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.