Variant (rsID / SNP)

rs587781290

rs587781290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,842,455. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 16:68842455
Cytoband: 16q22.1
HGVS: NM_004360.5(CDH1):c.521dup (p.Asn174fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|Breast lobular carcinoma

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.