Variant (rsID / SNP)
rs1057519990
rs1057519990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,142. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577142
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.796G>C (p.Gly266Arg)
- Allele change
- Missense_G134R
Associated conditions / phenotypes
Glioblastoma|Breast neoplasm|Neoplasm of the large intestine|Lung adenocarcinoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Uterine carcinosarcoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Small cell lung carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing 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.