Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121912580

SMAD4

rs121912580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,593,406. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SMAD4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
18:48593406
Cytoband
18q21.2
HGVS
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)
Allele change
Missense_G386D

Associated conditions / phenotypes

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Carcinoma of esophagus|Lung adenocarcinoma|Prostate adenocarcinoma|Gastric adenocarcinoma

Public references

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