Variant (rsID / SNP)
rs786201838
rs786201838 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,271. 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
- 17:7578271
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.578A>T (p.His193Leu)
- Allele change
- Missense_H61R
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|B-cell chronic lymphocytic leukemia|Brainstem glioma|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Papillary renal cell carcinoma, sporadic|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Lung adenocarcinoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Acute myeloid leukemia|Breast neoplasm|Uterine carcinosarcoma|Neoplasm of brain|Hepatocellular carcinoma|Li-Fraumeni syndrome|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.