Variant (rsID / SNP)

rs587783060

rs587783060 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMAD4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 18:48604724
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1547dup (p.Ser517fs)

Associated conditions / phenotypes

Generalized juvenile polyposis/juvenile polyposis coli|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.