Variant (rsID / SNP)
rs1057519747
rs1057519747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,412. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578412
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.518T>G (p.Val173Gly)
- Allele change
- Missense_V41E
Associated conditions / phenotypes
Malignant melanoma of skin|Pancreatic adenocarcinoma|Small cell lung carcinoma|Acute myeloid leukemia|Adrenal cortex carcinoma|Carcinoma of esophagus|Neoplasm of brain|Hepatocellular carcinoma|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Breast neoplasm|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Brainstem glioma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.