Variant (rsID / SNP)
rs876658468
rs876658468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,272. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578272
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.577C>T (p.His193Tyr)
- Allele change
- Missense_H61Y
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Papillary renal cell carcinoma, sporadic|Pancreatic adenocarcinoma|Hepatocellular carcinoma|B-cell chronic lymphocytic leukemia|Brainstem glioma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Lung adenocarcinoma|Uterine carcinosarcoma|Neoplasm of the large intestine|Acute myeloid leukemia|Squamous cell lung carcinoma|Carcinoma of esophagus|Breast neoplasm|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Small cell lung carcinoma|Li-Fraumeni syndrome|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.