Variant (rsID / SNP)
rs1057520003
rs1057520003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,314. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7579314
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
- Allele change
- Missense_T86P
Associated conditions / phenotypes
Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Gastric adenocarcinoma|Small cell lung carcinoma|Breast neoplasm|Glioblastoma|Brainstem glioma|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Neoplasm of brain|Acute myeloid leukemia|Squamous cell carcinoma of the skin|Renal cell carcinoma, papillary, 1|Lung adenocarcinoma|Adrenal cortex carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Carcinoma of esophagus|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.