Variant (rsID / SNP)

rs587782977

rs587782977 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,457,390. 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: 15:67457390
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.364G>A (p.Val122Met)
Allele change: Missense_V122M

Associated conditions / phenotypes

Loeys-Dietz syndrome|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.