Variant (rsID / SNP)

rs149127230

rs149127230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,857,469. Clinical significance in the table: Benign.

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Reference-table entries

CDH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:68857469
Cytoband: 16q22.1
HGVS: NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
Allele change: Missense_E702K

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|Endometrial carcinoma

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.