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CDH1 c.1016C>T ;(p.P339L)
Variant ID: 16-68846045-C-T
NM_004360.3(
CDH1
):c.1016C>T;(p.P339L)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.
Plos One
Simões-Correia, Joana J; Figueiredo, Joana J; Lopes, Rui R; Stricher, François F; Oliveira, Carla C; Serrano, Luis L; Seruca, Raquel R
Publication Date: 2012
Variant appearance in text: CDH1: P339L
PubMed Link:
22470475
Variant Present in the following documents:
View BVdb publication page