Variant (rsID / SNP)
rs201382018
rs201382018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,882. 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
- 17:7579882
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome|Li-Fraumeni syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
