Variant (rsID / SNP)
rs587782289
rs587782289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,575. 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
- 17:7577575
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
- Allele change
- Missense_Y104D
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Lung adenocarcinoma|Pancreatic adenocarcinoma|Breast neoplasm|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Neoplasm of brain|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
