Variant (rsID / SNP)
rs730881957
rs730881957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,603,037. Clinical significance in the table: Pathogenic.
Reference-table entries
SMAD4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 18:48603037
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.