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Variant (rsID / SNP)

rs377767331

SMAD4

rs377767331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,581,229. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SMAD4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
18:48581229
Cytoband
18q21.2
HGVS
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)
Allele change
Nonsense_S178X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Juvenile polyposis syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.