CYP2D6 c.505G>T ;(p.G169*)

Variant ID: 22-42525035-C-A

NM_000106.5(CYP2D6):c.505G>T;(p.G169*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science
Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L
Publication Date: 2021-01

Variant appearance in text: CYP2D6: Gly169Ter; rs5030865
PubMed Link: 32931151
Variant Present in the following documents:
  • CTS-14-204-s001.xlsx, sheet 1
View BVdb publication page



The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review.

Genes
Leitão, Luciana P C LPC; Souza, Tatiane P TP; Rodrigues, Juliana C G JCG; Fernandes, Marianne R MR; Santos, Sidney S; Santos, Ney P C NPC
Publication Date: 2020-02-28

Variant appearance in text: CYP2D6: G169X; rs5030865
PubMed Link: 32121156
Variant Present in the following documents:
  • genes-11-00262.pdf
View BVdb publication page



Development of the PGx-Passport: A Panel of Actionable Germline Genetic Variants for Pre-Emptive Pharmacogenetic Testing.

Clinical Pharmacology And Therapeutics
van der Wouden, Cathelijne H CH; van Rhenen, Mandy H MH; Jama, Wafa O M WOM; Ingelman-Sundberg, Magnus M; Lauschke, Volker M VM; Konta, Lidija L; Schwab, Matthias M; Swen, Jesse J JJ; Guchelaar, Henk-Jan HJ
Publication Date: 2019-10

Variant appearance in text: CYP2D6: G169X; rs5030865
PubMed Link: 31038729
Variant Present in the following documents:
  • CPT-106-866-s001.pdf
View BVdb publication page



CYP2D6 allele frequencies, copy number variants, and tandems in the population of Hong Kong.

Journal Of Clinical Laboratory Analysis
Chan, Wing W; Li, Man S MS; Sundaram, Senthil K SK; Tomlinson, Brian B; Cheung, Pik Y PY; Tzang, Chi H CH
Publication Date: 2019-01

Variant appearance in text: CYP2D6: 505G>T; Gly169Ter; rs5030865
PubMed Link: 30069923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation.

Plos One
Goh, Liuh Ling LL; Lim, Chia Wei CW; Sim, Wey Cheng WC; Toh, Li Xian LX; Leong, Khai Pang KP
Publication Date: 2017

Variant appearance in text: CYP2D6: G169X; rs5030865
PubMed Link: 28046094
Variant Present in the following documents:
  • Main text
  • pone.0169233.pdf
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: N/A
PubMed Link: 27984508
Variant Present in the following documents:
View BVdb publication page



Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ng, David D; Hong, Celine S CS; Singh, Larry N LN; Johnston, Jennifer J JJ; Mullikin, James C JC; Biesecker, Leslie G LG
Publication Date: 2017-03

Variant appearance in text: CYP2D6: 505G>T; Gly169X
PubMed Link: 27537706
Variant Present in the following documents:
  • NIHMS802548-supplement-Table_S4.pdf
View BVdb publication page



Length of psychiatric hospitalization is correlated with CYP2D6 functional status in inpatients with major depressive disorder.

Biomarkers In Medicine
Ruaño, Gualberto G; Szarek, Bonnie L BL; Villagra, David D; Gorowski, Krystyna K; Kocherla, Mohan M; Seip, Richard L RL; Goethe, John W JW; Schwartz, Harold I HI
Publication Date: 2013-06

Variant appearance in text: CYP2D6: G169X
PubMed Link: 23734807
Variant Present in the following documents:
  • Main text
View BVdb publication page