Variant (rsID / SNP)
rs1057519982
rs1057519982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,557. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577557
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
- Allele change
- Missense_C110G
Associated conditions / phenotypes
B-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Hepatocellular carcinoma|Carcinoma of esophagus|Gastric adenocarcinoma|Uterine carcinosarcoma|Glioblastoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.