Variant (rsID / SNP)
rs863224500
rs863224500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,576,873. Clinical significance in the table: Pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7576873
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.973G>T (p.Gly325Ter)
- Allele change
- Nonsense_G193X
Associated conditions / phenotypes
Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.