Variant (rsID / SNP)
rs863223770
rs863223770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,457,288. Clinical significance in the table: Pathogenic.
Reference-table entries
SMAD3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 15:67457288
- Cytoband
- 15q22.33
- HGVS
- NM_005902.4(SMAD3):c.263dup (p.Tyr88Ter)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.