Variant (rsID / SNP)
rs1057519985
rs1057519985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,081. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577081
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.857A>G (p.Glu286Gly)
- Allele change
- Missense_E154G
Associated conditions / phenotypes
Small cell lung carcinoma|Carcinoma of esophagus|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Acute myeloid leukemia|Breast neoplasm|Neoplasm of brain|Hepatocellular carcinoma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.