Variant (rsID / SNP)

rs121964871

rs121964871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,857,496. Clinical significance in the table: Likely benign.

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Reference-table entries

CDH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:68857496
Cytoband: 16q22.1
HGVS: NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
Allele change: Missense_L711V

Associated conditions / phenotypes

Endometrial carcinoma|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.