Variant (rsID / SNP)
rs1057519995
rs1057519995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,518. Clinical significance in the table: Uncertain significance.
Reference-table entries
TP53Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577518
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
- Allele change
- Missense_I123F
Associated conditions / phenotypes
Neoplasm of brain|Lung adenocarcinoma|Breast neoplasm|Glioblastoma|Carcinoma of esophagus|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Neoplasm of ovary|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.