Variant (rsID / SNP)

rs863224400

rs863224400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,591,896. Clinical significance in the table: Likely benign.

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Reference-table entries

SMAD4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:48591896
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=)
Allele change: Synonymous_Y353Y

Associated conditions / phenotypes

Juvenile polyposis syndrome|Hereditary cancer-predisposing 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.