Variant (rsID / SNP)

rs377767354

rs377767354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,591,977. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMAD4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:48591977
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1139+1G>A
Allele change: Silent

Associated conditions / phenotypes

Juvenile polyposis 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.