Variant (rsID / SNP)
rs1057519978
rs1057519978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,509. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578509
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
- Allele change
- Missense_C9G
Associated conditions / phenotypes
Lung adenocarcinoma|Neoplasm of brain|Acute myeloid leukemia|Multiple myeloma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Renal cell carcinoma, papillary, 1|Prostate adenocarcinoma|Breast neoplasm|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.