Variant (rsID / SNP)
rs764146326
rs764146326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,097. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577097
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
- Allele change
- Missense_D149H
Associated conditions / phenotypes
B-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Breast neoplasm|Pancreatic adenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Renal cell carcinoma, papillary, 1|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Hepatocellular carcinoma|Malignant melanoma of skin|Glioblastoma|Malignant neoplasm of body of uterus|Neuroblastoma|Uterine carcinosarcoma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.