E336D (p.Glu336Asp) variant of CDH1 (Cadherin-1)
E336D (p.Glu336Asp) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The record also includes published literature and structural context.
E336D (p.Glu336Asp) variant details
- p.Glu336Asp
- rs267606712
- ClinGen CA280990
- ClinVar RCV000572541
- ClinVar RCV003328159
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Pathogenic (in DGLBC)
- UniProt: Pathogenic (in DGLBC)
- Structural context available
- Cited in: FAMILIAL GASTRIC CANCER. (PMID 14158754)
- Cited in: E-cadherin gene mutations in human gastric carcinoma cell lines. (PMID 8127895)