Variant (rsID / SNP)

rs768713596

rs768713596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,457,303. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SMAD3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:67457303
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter)
Allele change: Nonsense_R93X

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.