Variant (rsID / SNP)
rs1057520005
rs1057520005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,118. 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
- 17:7577118
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.820G>T (p.Val274Phe)
- Allele change
- Missense_V142L
Associated conditions / phenotypes
Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Hepatocellular carcinoma|Gastric adenocarcinoma|Prostate adenocarcinoma|Neoplasm of brain|Small cell lung carcinoma|Breast neoplasm|Li-Fraumeni syndrome|Lip and oral cavity carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.