Variant (rsID / SNP)
rs1057520000
rs1057520000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,478. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578478
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.452C>A (p.Pro151His)
- Allele change
- Missense_P19R
Associated conditions / phenotypes
Pancreatic adenocarcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Squamous cell lung carcinoma|Neoplasm of brain|Breast neoplasm|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Adenoid cystic carcinoma|Multiple myeloma|Li-Fraumeni syndrome|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.