Variant (rsID / SNP)
rs587782705
rs587782705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,475. Clinical significance in the table: Pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578475
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
- Allele change
- Missense_P20L
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Familial cancer of breast|Lip and oral cavity carcinoma|Squamous cell carcinoma of the head and neck
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.