Variant (rsID / SNP)
rs34507583
rs34507583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,867,391. 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
- 16:68867391
- Cytoband
- 16q22.1
- HGVS
- NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
- Allele change
- Missense_E880K
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
