Variant (rsID / SNP)
rs878854765
rs878854765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,593,453. Clinical significance in the table: Pathogenic.
Reference-table entries
SMAD4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 18:48593453
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter)
Associated conditions / phenotypes
Juvenile polyposis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.