Variant (rsID / SNP)
rs587780118
rs587780118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,857,445. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CDH1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:68857445
- Cytoband
- 16q22.1
- HGVS
- NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
- Allele change
- Missense_V694I
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.