Variant (rsID / SNP)
rs1057519984
rs1057519984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,095. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577095
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.843C>G (p.Asp281Glu)
- Allele change
- Missense_D149E
Associated conditions / phenotypes
Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Breast neoplasm|Malignant melanoma of skin|Squamous cell carcinoma of the skin|Uterine carcinosarcoma|Lung adenocarcinoma|Glioblastoma|Neuroblastoma|B-cell chronic lymphocytic leukemia|Renal cell carcinoma, papillary, 1|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Multiple myeloma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|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.