Variant (rsID / SNP)
rs1057519981
rs1057519981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,569. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577569
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
- Allele change
- Missense_C106G
Associated conditions / phenotypes
Glioblastoma|Neoplasm of uterine cervix|Multiple myeloma|Pancreatic adenocarcinoma|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Neoplasm of the large intestine|Breast neoplasm|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.