Variant (rsID / SNP)
rs17849781
rs17849781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,106. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577106
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
- Allele change
- Missense_P146A
Associated conditions / phenotypes
Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Lung adenocarcinoma|Neoplasm of brain|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Breast neoplasm|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Multiple myeloma|Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome|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.
