Variant (rsID / SNP)

rs377767373

rs377767373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,604,724. 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: Microsatellite
Chromosome / position: 18:48604724
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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