Variant (rsID / SNP)
rs1057519986
rs1057519986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,129. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577129
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
- Allele change
- Missense_F138C
Associated conditions / phenotypes
Carcinoma of esophagus|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Squamous cell carcinoma of the skin|Breast neoplasm|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.