Variant (rsID / SNP)

rs753486471

rs753486471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,473,717. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMAD3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:67473717
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter)
Allele change: Nonsense_S266X

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype

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.