Variant (rsID / SNP)
rs876660754
rs876660754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,413. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578413
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.517G>A (p.Val173Met)
- Allele change
- Missense_V41M
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Breast neoplasm|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Hepatocellular carcinoma|Neoplasm of the large intestine|Adrenal cortex carcinoma|Neoplasm of brain|Brainstem glioma|Malignant melanoma of skin|Gastric adenocarcinoma|Small cell lung carcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Neoplasm of ovary|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.