IDH1 c.371G>A ;(p.W124*)

Variant ID: 2-209113136-C-T

NM_005896.2(IDH1):c.371G>A;(p.W124*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Impact of phospholipase C β1 in glioblastoma: a study on the main mechanisms of tumor aggressiveness.

Cellular And Molecular Life Sciences : Cmls
Ratti, Stefano S; Marvi, Maria Vittoria MV; Mongiorgi, Sara S; Obeng, Eric Owusu EO; Rusciano, Isabella I; Ramazzotti, Giulia G; Morandi, Luca L; Asioli, Sofia S; Zoli, Matteo M; Mazzatenta, Diego D; Suh, Pann-Ghill PG; Manzoli, Lucia L; Cocco, Lucio L
Publication Date: 2022-03-18

Variant appearance in text: IDH1: W124*
PubMed Link: 35303162
Variant Present in the following documents:
  • 18_2022_4198_MOESM1_ESM.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: IDH1: W124*
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page



Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer
Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K
Publication Date: 2016-11-16

Variant appearance in text: IDH1: W124X
PubMed Link: 27852271
Variant Present in the following documents:
  • 12943_2016_553_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: IDH1: W124X
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page