Variant (rsID / SNP)
rs193920774
rs193920774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,141. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577141
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
- Allele change
- Missense_G134E
Associated conditions / phenotypes
Malignant tumor of prostate|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Glioblastoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the skin|Neoplasm of brain|Malignant melanoma of skin|Neoplasm of the large intestine|Uterine carcinosarcoma|Carcinoma of esophagus|Breast neoplasm|Small cell lung carcinoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Squamous cell lung carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|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.