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Variant (rsID / SNP)

rs377767360

SMAD4

rs377767360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,603,032. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMAD4Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
18:48603032
Cytoband
18q21.2
HGVS
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)
Allele change
Nonsense_R445X

Associated conditions / phenotypes

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

Public references

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