Variant (rsID / SNP)

rs387906856

rs387906856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD3. Location: chromosome 15, position 67,479,774. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMAD3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:67479774
Cytoband: 15q22.33
HGVS: NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter)
Allele change: Nonsense_E361X

Associated conditions / phenotypes

Aneurysm-osteoarthritis syndrome

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.