Variant (rsID / SNP)
rs1057520007
rs1057520007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,235. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578235
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)
- Allele change
- Missense_Y73S
Associated conditions / phenotypes
Hepatocellular carcinoma|Renal cell carcinoma, papillary, 1|Squamous cell carcinoma of the head and neck|Non-Hodgkin lymphoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Breast neoplasm|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Lung adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Carcinoma of esophagus|Neoplasm of brain|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.