IDH1 c.284C>A ;(p.P95Q)

Variant ID: 2-209113223-G-T

NM_005896.2(IDH1):c.284C>A;(p.P95Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis is associated with increased risk of progression of asymptomatic Waldenström macroglobulinemia.

Blood Advances
Tahri, Sabrin S; Mouhieddine, Tarek H TH; Redd, Robert R; Lampe, Luisa L; Nilsson, Katarina I KI; El-Khoury, Habib H; Su, Nang Kham NK; Nassar, Amin H AH; Adib, Elio E; Bindra, Govind G; Abou Alaiwi, Sarah S; Trippa, Lorenzo L; Steensma, David P DP; Castillo, Jorge J JJ; Treon, Steven P SP; Ghobrial, Irene M IM; Sperling, Adam S AS
Publication Date: 2022-04-12

Variant appearance in text: IDH1: 284C>A; P95H
PubMed Link: 34847227
Variant Present in the following documents:
  • advancesADV2021004926-suppl1.pdf
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: IDH1: 284C>A; Pro95Gln
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 9
  • bty518_supplementary_data_s3.xlsx, sheet 9
  • bty518_supplementary_data_s1.xlsx, sheet 9
View BVdb publication page