Variant (rsID / SNP)
rs28934571
rs28934571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,534. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TP53Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577534
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
- Allele change
- Missense_R117S
Associated conditions / phenotypes
Hepatocellular carcinoma|Cancer of cervix|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|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.