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Variant (rsID / SNP)

rs138135866

CDH1

rs138135866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,847,301. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:68847301
Cytoband
16q22.1
HGVS
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
Allele change
Missense_A408V

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.