Variant (rsID / SNP)
rs587782620
rs587782620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,503. 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
- 17:7578503
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.427G>A (p.Val143Met)
- Allele change
- Missense_V11M
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast neoplasm|Li-Fraumeni syndrome 1|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
