Variant (rsID / SNP)
rs587782664
rs587782664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,570. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577570
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.711G>A (p.Met237Ile)
- Allele change
- Missense_M105I
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Malignant neoplasm of body of uterus|Brainstem glioma|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Breast neoplasm|Carcinoma of esophagus|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome|Neoplasm of ovary|Breast and/or ovarian cancer|Li-Fraumeni syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.