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Variant (rsID / SNP)

rs117185005

SMAD3

rs117185005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,473,790. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SMAD3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
15:67473790
Cytoband
15q22.33
HGVS
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
Allele change
Synonymous_I290I

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Cardiovascular phenotype|Aneurysm-osteoarthritis syndrome|Ehlers-Danlos syndrome

Public references

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