Variant (rsID / SNP)

rs387906854

rs387906854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,457,361. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SMAD3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:67457361
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)
Allele change: Missense_A112V

Associated conditions / phenotypes

Aneurysm-osteoarthritis syndrome|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.