Variant (rsID / SNP)

rs786202033

rs786202033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,857,364. Clinical significance in the table: Pathogenic.

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Reference-table entries

CDH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 16:68857364
Cytoband: 16q22.1
HGVS: NM_004360.5(CDH1):c.1999del (p.Leu667fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|Malignant tumor of breast

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.