Variant (rsID / SNP)
rs587780070
rs587780070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,395. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578395
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.535C>T (p.His179Tyr)
- Allele change
- Missense_H47Y
Associated conditions / phenotypes
Squamous cell lung carcinoma|Gastric adenocarcinoma|Acute myeloid leukemia|Glioblastoma|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Uterine carcinosarcoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Neoplasm of brain|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Gallbladder carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|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.