DMD c.434G>A ;(p.R145Q)

Variant ID: X-32834681-C-T

NM_004006.2(DMD):c.434G>A;(p.R145Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


CLL cells cumulate genetic aberrations prior to the first therapy even in outwardly inactive disease phase.

Leukemia
Hernández-Sánchez, María M; Kotaskova, Jana J; Rodríguez, Ana E AE; Radova, Lenka L; Tamborero, David D; Abáigar, María M; Plevova, Karla K; Benito, Rocío R; Tom, Nikola N; Quijada-Álamo, Miguel M; Bikos, Vasileos V; Martín, Ana África AÁ; Pal, Karol K; García de Coca, Alfonso A; Doubek, Michael M; López-Bigas, Nuria N; Hernández-Rivas, Jesús-María JM; Pospisilova, Sarka S
Publication Date: 2019-02

Variant appearance in text: DMD: 434G>A; R145H
PubMed Link: 30209402
Variant Present in the following documents:
  • 41375_2018_255_MOESM3_ESM.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: DMD: 434G>A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



The Genomic Landscape of Renal Oncocytoma Identifies a Metabolic Barrier to Tumorigenesis.

Cell Reports
Joshi, Shilpy S; Tolkunov, Denis D; Aviv, Hana H; Hakimi, Abraham A AA; Yao, Ming M; Hsieh, James J JJ; Ganesan, Shridar S; Chan, Chang S CS; White, Eileen E
Publication Date: 2015-12-01

Variant appearance in text: DMD: R145Q
PubMed Link: 26655904
Variant Present in the following documents:
  • NIHMS762760-supplement-Table_S2.pdf
View BVdb publication page