Variant (rsID / SNP)
rs864622237
rs864622237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,581. 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
- 17:7577581
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
- Allele change
- Missense_Y102H
Associated conditions / phenotypes
Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Small cell lung carcinoma|Carcinoma of esophagus|Glioblastoma|Gastric adenocarcinoma|Neoplasm of the large intestine|Adrenal cortex carcinoma|Hepatocellular carcinoma|Breast neoplasm|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Pancreatic adenocarcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.