Variant (rsID / SNP)

rs377767334

rs377767334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,584,513. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMAD4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 18:48584513
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.692dup (p.Ser232fs)

Associated conditions / phenotypes

Juvenile polyposis of stomach|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|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.