Variant (rsID / SNP)
rs866775781
rs866775781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,534. Clinical significance in the table: Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578534
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
- Allele change
- Silent
Associated conditions / phenotypes
Lung adenocarcinoma|Breast neoplasm|Multiple myeloma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Squamous cell lung carcinoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Adrenal cortex carcinoma|Glioblastoma|Gastric adenocarcinoma|Neoplasm of uterine cervix|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.