CDH1 c.1840A>G ;(p.I614V)

Variant ID: 16-68856032-A-G

NM_004360.3(CDH1):c.1840A>G;(p.I614V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers
Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT
Publication Date: 2023-03-22

Variant appearance in text: CDH1: 1840A>G
PubMed Link: 36980780
Variant Present in the following documents:
  • Main text
  • cancers-15-01895.pdf
View BVdb publication page



Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: CDH1: 1840A>G; Ile614Val
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.

Clujul Medical (1957)
Goidescu, Iulian Gabriel IG; Caracostea, Gabriela G; Eniu, Dan Tudor DT; Stamatian, Florin Vasile FV
Publication Date: 2018

Variant appearance in text: CDH1: 1840A>G
PubMed Link: 29785153
Variant Present in the following documents:
  • Main text
  • cm-91-157.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CDH1: 1840A>G; Ile614Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page