Variant (rsID / SNP)
rs1057519983
rs1057519983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,115. Clinical significance in the table: Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577115
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
- Allele change
- Missense_C143R
Associated conditions / phenotypes
Neoplasm of brain|Breast neoplasm|Hepatocellular carcinoma|Multiple myeloma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Renal cell carcinoma, papillary, 1|Lung adenocarcinoma|Carcinoma of esophagus|Glioblastoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the head and neck|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.