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Variant (rsID / SNP)

rs387906855

SMAD3

rs387906855 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,473,708. 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
15:67473708
Cytoband
15q22.33
HGVS
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
Allele change
Missense_P263L

Associated conditions / phenotypes

Aneurysm-osteoarthritis syndrome|Cardiovascular phenotype

Public references

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