Variant (rsID / SNP)
rs760043106
rs760043106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,265. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578265
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
- Allele change
- Missense_I63N
Associated conditions / phenotypes
Li-Fraumeni syndrome|Breast neoplasm|Neoplasm of brain|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Uterine carcinosarcoma|Carcinoma of esophagus|Lung adenocarcinoma|Acute myeloid leukemia|Pancreatic adenocarcinoma|Glioblastoma|Hepatocellular carcinoma|Multiple myeloma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|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.