Variant (rsID / SNP)
rs747342068
rs747342068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,536. 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
- 17:7578536
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
- Allele change
- Silent
Associated conditions / phenotypes
Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Breast neoplasm|Neoplasm of uterine cervix|Carcinoma of esophagus|Adrenal cortex carcinoma|Neoplasm of brain|Squamous cell lung carcinoma|Glioblastoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Gastric adenocarcinoma|Hereditary cancer-predisposing 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.