Variant (rsID / SNP)
rs121913344
rs121913344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,022. Clinical significance in the table: Pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577022
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
- Allele change
- Nonsense_R174X
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Head and neck neoplasm|Neoplasm of the large intestine|Neoplasm of ovary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.