Variant (rsID / SNP)
rs587781991
rs587781991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,526. 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
- 17:7578526
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
- Allele change
- Missense_C3F
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Adrenal cortex carcinoma|Neoplasm of the large intestine|Neoplasm of brain|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.