CDH1 c.695C>G ;(p.S232C)

Variant ID: 16-68844107-C-G

NM_004360.3(CDH1):c.695C>G;(p.S232C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.

Cancers
Corso, Giovanni G; Corso, Federica F; Bellerba, Federica F; Carneiro, Patrícia P; Seixas, Susana S; Cioffi, Antonio A; La Vecchia, Carlo C; Magnoni, Francesca F; Bonanni, Bernardo B; Veronesi, Paolo P; Gandini, Sara S; Figueiredo, Joana J
Publication Date: 2021-03-12

Variant appearance in text: CDH1: S232C
PubMed Link: 33809393
Variant Present in the following documents:
  • Main text
  • cancers-13-01269-s001.pdf
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: CDH1: 695C>G; S232C
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic profile analysis of diffuse-type gastric cancers.

Genome Biology
Lee, Yeon-Su YS; Cho, Yun Sung YS; Lee, Geon Kook GK; Lee, Sunghoon S; Kim, Young-Woo YW; Jho, Sungwoong S; Kim, Hak-Min HM; Hong, Seung-Hyun SH; Hwang, Jung-Ah JA; Kim, Sook-young SY; Hong, Dongwan D; Choi, Il Ju IJ; Kim, Byung Chul BC; Kim, Byoung-Chul BC; Kim, Chul Hong CH; Choi, Hansol H; Kim, Youngju Y; Kim, Kyung Wook KW; Kong, Gu G; Kim, Hyung Lae HL; Bhak, Jong J; Lee, Seung Hoon SH; Lee, Jin Soo JS
Publication Date: 2014-04-01

Variant appearance in text: CDH1: S232C
PubMed Link: 24690483
Variant Present in the following documents:
  • gb-2014-15-4-r55-S1.pdf
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: S232C
PubMed Link: 22470475
Variant Present in the following documents:
  • Main text
  • pone.0033783.pdf
View BVdb publication page