Variant (rsID / SNP)

rs863223738

rs863223738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,473,692. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SMAD3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:67473692
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.772G>C (p.Asp258His)
Allele change: Missense_D258H

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection

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.