IDH1 c.94T>G ;(p.F32V)

Variant ID: 2-209116182-A-C

NM_005896.2(IDH1):c.94T>G;(p.F32V)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.

Nature Communications
DeSisto, John J; Lucas, John T JT; Xu, Ke K; Donson, Andrew A; Lin, Tong T; Sanford, Bridget B; Wu, Gang G; Tran, Quynh T QT; Hedges, Dale D; Hsu, Chih-Yang CY; Armstrong, Gregory T GT; Arnold, Michael M; Bhatia, Smita S; Flannery, Patrick P; Lemma, Rakeb R; Hardie, Lakotah L; Schüller, Ulrich U; Venkataraman, Sujatha S; Hoffman, Lindsey M LM; Dorris, Kathleen K; Mulcahy Levy, Jean M JM; Hankinson, Todd C TC; Handler, Michael M; Liu, Arthur K AK; Foreman, Nicholas N; Vibhakar, Rajeev R; Jones, Kenneth K; Allen, Sariah S; Zhang, Jinghui J; Baker, Suzanne J SJ; Merchant, Thomas E TE; Orr, Brent A BA; Green, Adam L AL
Publication Date: 2021-09-20

Variant appearance in text: IDH1: F32V; rs142923780
PubMed Link: 34545084
Variant Present in the following documents:
  • 41467_2021_25709_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.

Medicine
Moore, Assaf A; Bar, Yael Y; Maurice-Dror, Corinne C; Finkel, Inbar I; Goldvaser, Hadar H; Dudnik, Elizabeth E; Goldstein, Daniel A DA; Gordon, Noa N; Billan, Salem S; Gutfeld, Orit O; Wolf, Ido I; Popovtzer, Aron A
Publication Date: 2021-06-25

Variant appearance in text: IDH1: F32V
PubMed Link: 34160418
Variant Present in the following documents:
  • Main text
  • medi-100-e26388.pdf
View BVdb publication page



Targeted next-generation sequencing of 565 neuro-oncology patients at UCLA: A single-institution experience.

Neuro-Oncology Advances
Ji, Matthew S MS; Eldred, Blaine S C BSC; Liu, Regina R; Pianka, Sean T ST; Molaie, Donna D; Kevan, Bryan B; Pan, Stephanie S; Lai, Thomas J TJ; Nguyen, Nhung T NT; Chow, Frances E FE; Yong, William H WH; Cox, Christopher D CD; Reeh, Devin N DN; Li, Tie T; Liau, Linda M LM; Nghiemphu, Phioanh L PL; Cloughesy, Timothy F TF; Li, Gang G; Lai, Albert A
Publication Date: 2020

Variant appearance in text: IDH1: F32V
PubMed Link: 32118206
Variant Present in the following documents:
  • Main text
  • vdaa009.pdf
View BVdb publication page



Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine
Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY
Publication Date: 2019-12

Variant appearance in text: IDH1: 94T>G; F32V; rs142923780
PubMed Link: 31761620
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: IDH1: 94T>G; Phe32Val; rs142923780
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 6
View BVdb publication page



Exome analysis of carotid body tumor.

Bmc Medical Genomics
Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Dmitriev, Alexey A AA; Koroban, Nadezhda V NV; Pudova, Elena A EA; Fedorova, Maria S MS; Volchenko, Nadezhda N NN; Stepanov, Oleg A OA; Zhevelyuk, Ekaterina A EA; Kharitonov, Sergey L SL; Lipatova, Anastasiya V AV; Abramov, Ivan S IS; Golovyuk, Alexander V AV; Yegorov, Yegor E YE; Vishnyakova, Khava S KS; Moskalev, Alexey A AA; Krasnov, George S GS; Melnikova, Nataliya V NV; Shcherbo, Dmitry S DS; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Alekseev, Boris Y BY; Zaretsky, Andrew R AR; Kudryavtseva, Anna V AV
Publication Date: 2018-02-13

Variant appearance in text: IDH1: 94T>G; Phe32Val; rs142923780
PubMed Link: 29504908
Variant Present in the following documents:
  • Main text
  • 12920_2018_327_MOESM3_ESM.xlsx, sheet 1
  • 12920_2018_Article_327.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: IDH1: 94T>G; F32V; rs142923780
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12

Variant appearance in text: IDH1: 94T>G; F32V
PubMed Link: 27997549
Variant Present in the following documents:
  • pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: IDH1: 94T>G; F32V; rs142923780
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Scientific Reports
Kooi, Irsan E IE; Mol, Berber M BM; Massink, Maarten P G MP; Ameziane, Najim N; Meijers-Heijboer, Hanne H; Dommering, Charlotte J CJ; van Mil, Saskia E SE; de Vries, Yne Y; van der Hout, Annemarie H AH; Kaspers, Gertjan J L GJ; Moll, Annette C AC; Te Riele, Hein H; Cloos, Jacqueline J; Dorsman, Josephine C JC
Publication Date: 2016-04-29

Variant appearance in text: IDH1: F32V; rs142923780
PubMed Link: 27126562
Variant Present in the following documents:
  • srep25264-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: IDH1: F32V; rs142923780
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 11
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: IDH1: F32V; rs142923780
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page