Variant (rsID / SNP)
rs28934576
rs28934576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,120. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577120
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.818G>A (p.Arg273His)
- Allele change
- Missense_R141H
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Thyroid gland undifferentiated (anaplastic) carcinoma|Hereditary cancer-predisposing syndrome|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Neoplasm of brain|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Adrenal cortex carcinoma|Multiple myeloma|Uterine carcinosarcoma|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Malignant melanoma of skin|Brainstem glioma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Glioblastoma|Small cell lung carcinoma|Acute myeloid leukemia|Breast neoplasm|Li-Fraumeni syndrome|Neoplasm|Medulloblastoma|Hepatocellular carcinoma|Neoplasm of the large intestine|11 conditions|Neoplasm of ovary|Rhabdomyosarcoma|Malignant tumor of breast|Familial cancer of breast|Colorectal cancer|Multiple myeloma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.