Variant (rsID / SNP)
rs786203436
rs786203436 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,443. 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
- 17:7578443
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)
- Allele change
- Missense_Y31N
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Small cell lung carcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Breast neoplasm|Neoplasm of brain|Neoplasm of the large intestine|Brainstem glioma|Squamous cell lung carcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.