Variant (rsID / SNP)

rs139866691

rs139866691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,772,239. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:68772239
Cytoband: 16q22.1
HGVS: NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
Allele change: Missense_P30T

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|Orofacial cleft|Breast and/or ovarian cancer

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.