Variant (rsID / SNP)

rs121912581

rs121912581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,591,891. 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: 18:48591891
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)
Allele change: Missense_G352R

Associated conditions / phenotypes

Juvenile polyposis/hereditary hemorrhagic telangiectasia 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.