Variant (rsID / SNP)

rs587776880

rs587776880 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,473,661. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMAD3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 15:67473661
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.741_742del (p.Phe248fs)

Associated conditions / phenotypes

Aneurysm-osteoarthritis 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.