Variant (rsID / SNP)
rs786202514
rs786202514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,414. Clinical significance in the table: Pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 17:7578414
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.511_515dup (p.Val173fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.