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CDH1 c.1796C>G ;(p.T599S)
Variant ID: 16-68855988-C-G
NM_004360.3(
CDH1
):c.1796C>G;(p.T599S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Roles for E-cadherin cell surface regulation in cancer.
Molecular Biology Of The Cell
Petrova, Yuliya I YI; Schecterson, Leslayann L; Gumbiner, Barry M BM
Publication Date: 2016-11-01
Variant appearance in text: CDH1: T599S
PubMed Link:
27582386
Variant Present in the following documents:
Main text
3233.pdf
View BVdb publication page
Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.
Journal Of Human Genetics
Lefevre, Jérémie H JH; Bonilla, Carolina C; Colas, Chrystelle C; Winney, Bruce B; Johnstone, Elaine E; Tonks, Susan S; Day, Tammy T; Hutnik, Katarzyna K; Boumertit, Abdelhamid A; Soubrier, Florent F; Midgley, Rachel R; Kerr, David D; Parc, Yann Y; Bodmer, Walter F WF
Publication Date: 2012-11-26
Variant appearance in text: CDH1: T599S
PubMed Link:
22875147
Variant Present in the following documents:
Main text
View BVdb publication page
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: 1796C>G; T599S
PubMed Link:
22470475
Variant Present in the following documents:
Main text
pone.0033783.pdf
View BVdb publication page