Variant (rsID / SNP)
rs1057519996
rs1057519996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,535. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578535
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Adrenal cortex carcinoma|Neoplasm of brain|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Multiple myeloma|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Breast neoplasm|Carcinoma of esophagus|Lung adenocarcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Glioblastoma|Li-Fraumeni syndrome|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.