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Variant (rsID / SNP)

rs139616052

SMAD3

rs139616052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,477,078. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMAD3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:67477078
Cytoband
15q22.33
HGVS
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
Allele change
Synonymous_R295R

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Cardiovascular phenotype

Public references

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