Variant (rsID / SNP)
rs1057519991
rs1057519991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,394. 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
- 17:7578394
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.536A>G (p.His179Arg)
- Allele change
- Missense_H47P
Associated conditions / phenotypes
Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Glioblastoma|Lung adenocarcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Gallbladder carcinoma|Neoplasm of brain|Neoplasm of the large intestine|Breast neoplasm|Uterine carcinosarcoma|Small cell lung carcinoma|Malignant melanoma of skin|Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.