Variant (rsID / SNP)
rs967461896
rs967461896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,404. 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
- 17:7578404
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
- Allele change
- Missense_C44G
Associated conditions / phenotypes
Acute myeloid leukemia|Lung adenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Breast neoplasm|Squamous cell lung carcinoma|Carcinoma of esophagus|Renal cell carcinoma, papillary, 1|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.