Variant (rsID / SNP)

rs1057519739

rs1057519739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,591,888. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMAD4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:48591888
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn)
Allele change: Missense_D351H

Associated conditions / phenotypes

Neoplasm of the large intestine

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.