CDH1 c.768T>A ;(p.N256K)

Variant ID: 16-68844180-T-A

NM_004360.3(CDH1):c.768T>A;(p.N256K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


To Stick or Not to Stick: Adhesions in Orofacial Clefts.

Biology
Antiguas, Angelo A; Paul, Brian J BJ; Dunnwald, Martine M
Publication Date: 2022-01-18

Variant appearance in text: CDH1: 768T>A; Asn256Lys
PubMed Link: 35205020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Journal Of Medical Genetics
Figueiredo, Joana J; Melo, Soraia S; Carneiro, Patrícia P; Moreira, Ana Margarida AM; Fernandes, Maria Sofia MS; Ribeiro, Ana Sofia AS; Guilford, Parry P; Paredes, Joana J; Seruca, Raquel R
Publication Date: 2019-04

Variant appearance in text: CDH1: 768T>A; Asn256Lys
PubMed Link: 30661051
Variant Present in the following documents:
  • Main text
  • jmedgenet-2018-105807.pdf
View BVdb publication page



Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

American Journal Of Human Genetics
Cox, Liza L LL; Cox, Timothy C TC; Moreno Uribe, Lina M LM; Zhu, Ying Y; Richter, Chika T CT; Nidey, Nichole N; Standley, Jennifer M JM; Deng, Mei M; Blue, Elizabeth E; Chong, Jessica X JX; Yang, Yueqin Y; Carstens, Russ P RP; Anand, Deepti D; Lachke, Salil A SA; Smith, Joshua D JD; Dorschner, Michael O MO; Bedell, Bruce B; Kirk, Edwin E; Hing, Anne V AV; Venselaar, Hanka H; Valencia-Ramirez, Luz C LC; Bamshad, Michael J MJ; Glass, Ian A IA; Cooper, Jonathan A JA; Haan, Eric E; Nickerson, Deborah A DA; van Bokhoven, Hans H; Zhou, Huiqing H; Krahn, Katy N KN; Buckley, Michael F MF; Murray, Jeffrey C JC; Lidral, Andrew C AC; Roscioli, Tony T
Publication Date: 2018-06-07

Variant appearance in text: CDH1: 768T>A; Asn256Lys
PubMed Link: 29805042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of genomic aberrations associated with lymph node metastasis in diffuse-type gastric cancer.

Experimental & Molecular Medicine
Choi, Ji-Hye JH; Kim, Young-Bae YB; Ahn, Ji Mi JM; Kim, Min Jae MJ; Bae, Won Jung WJ; Han, Sang-Uk SU; Woo, Hyun Goo HG; Lee, Dakeun D
Publication Date: 2018-04-06

Variant appearance in text: CDH1: N256K
PubMed Link: 29622765
Variant Present in the following documents:
  • Main text
  • 12276_2017_Article_9.pdf
View BVdb publication page



Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

European Journal Of Human Genetics : Ejhg
Kievit, Anneke A; Tessadori, Federico F; Douben, Hannie H; Jordens, Ingrid I; Maurice, Madelon M; Hoogeboom, Jeannette J; Hennekam, Raoul R; Nampoothiri, Sheela S; Kayserili, Hülya H; Castori, Marco M; Whiteford, Margo M; Motter, Connie C; Melver, Catherine C; Cunningham, Michael M; Hing, Anne A; Kokitsu-Nakata, Nancy M NM; Vendramini-Pittoli, Siulan S; Richieri-Costa, Antonio A; Baas, Annette F AF; Breugem, Corstiaan C CC; Duran, Karen K; Massink, Maarten M; Derksen, Patrick W B PWB; van IJcken, Wilfred F J WFJ; van Unen, Leontine L; Santos-Simarro, Fernando F; Lapunzina, Pablo P; Gil-da Silva Lopes, Vera L VL; Lustosa-Mendes, Elaine E; Krall, Max M; Slavotinek, Anne A; Martinez-Glez, Victor V; Bakkers, Jeroen J; van Gassen, Koen L I KLI; de Klein, Annelies A; van den Boogaard, Marie-José H MH; van Haaften, Gijs G
Publication Date: 2018-02

Variant appearance in text: CDH1: 768T>A; Asn256Lys
PubMed Link: 29348693
Variant Present in the following documents:
  • Main text
View BVdb publication page