Variant (rsID / SNP)
rs1057519994
rs1057519994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,264. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578264
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.585C>G (p.Ile195Met)
- Allele change
- Missense_I63M
Associated conditions / phenotypes
Acute myeloid leukemia|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Uterine carcinosarcoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Multiple myeloma|Gastric adenocarcinoma|Neoplasm of the large intestine|Lung adenocarcinoma|Glioblastoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.