Variant (rsID / SNP)
rs1057519987
rs1057519987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,128. Clinical significance in the table: Likely pathogenic.
Reference-table entries
TP53Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577128
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.810T>G (p.Phe270Leu)
- Allele change
- Missense_F138L
Associated conditions / phenotypes
Breast neoplasm|Neoplasm of brain|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.