Variant (rsID / SNP)

rs587783048

rs587783048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,863,656. Clinical significance in the table: Pathogenic.

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Reference-table entries

CDH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 16:68863656
Cytoband: 16q22.1
HGVS: NM_004360.5(CDH1):c.2398del (p.Arg800fs)

Associated conditions / phenotypes

Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing 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.