Variant (rsID / SNP)
rs121912660
rs121912660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,099. Clinical significance in the table: Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577099
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
- Allele change
- Missense_R148T
Associated conditions / phenotypes
Nasopharyngeal carcinoma|Li-Fraumeni syndrome|Hepatocellular carcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Breast neoplasm|Acute myeloid leukemia|Neoplasm of uterine cervix|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Lung adenocarcinoma|Nasopharyngeal neoplasm|Neoplasm of brain|Carcinoma of esophagus|Uterine carcinosarcoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.