Variant (rsID / SNP)
rs121912657
rs121912657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,124. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577124
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.814G>T (p.Val272Leu)
- Allele change
- Missense_V140L
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Renal cell carcinoma, papillary, 1|Medulloblastoma|Malignant neoplasm of body of uterus|Multiple myeloma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.