IDH1 c.284C>T ;(p.P95L)

Variant ID: 2-209113223-G-A

NM_005896.2(IDH1):c.284C>T;(p.P95L)

This variant was identified in 4 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>T; P95L
PubMed Link: 34847227
Variant Present in the following documents:
  • advancesADV2021004926-suppl1.pdf
View BVdb publication page



Structural aberrations are associated with poor survival in patients with clonal cytopenia of undetermined significance.

Haematologica
Mikkelsen, Stine U SU; Safavi, Setareh S; Dimopoulos, Konstantinos K; O'Rourke, Colm J CJ; Andersen, Mette K MK; Holm, Mette S MS; Marcher, Claus W CW; Andersen, Jesper B JB; Hansen, Jakob W JW; Grønbæk, Kirsten K
Publication Date: 2021-06-01

Variant appearance in text: IDH1: 284C>T; Pro95Leu
PubMed Link: 33179473
Variant Present in the following documents:
  • 2020_263319_MIKKELSEN_SUPPL.pdf
View BVdb publication page



Splicing factor mutations predict poor prognosis in patients with de novo acute myeloid leukemia.

Oncotarget
Hou, Hsin-An HA; Liu, Chieh-Yu CY; Kuo, Yuan-Yeh YY; Chou, Wen-Chien WC; Tsai, Cheng-Hong CH; Lin, Chien-Chin CC; Lin, Liang-In LI; Tseng, Mei-Hsuan MH; Chiang, Ying-Chieh YC; Liu, Ming-Chih MC; Liu, Chia-Wen CW; Tang, Jih-Luh JL; Yao, Ming M; Li, Chi-Cheng CC; Huang, Shang-Yi SY; Ko, Bor-Sheng BS; Hsu, Szu-Chun SC; Chen, Chien-Yuan CY; Lin, Chien-Ting CT; Wu, Shang-Ju SJ; Tsay, Woei W; Tien, Hwei-Fang HF
Publication Date: 2016-02-23

Variant appearance in text: IDH1: 284C>T
PubMed Link: 26812887
Variant Present in the following documents:
  • Main text
View BVdb publication page



Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis.

Cell Reports
McKerrell, Thomas T; Park, Naomi N; Moreno, Thaidy T; Grove, Carolyn S CS; Ponstingl, Hannes H; Stephens, Jonathan J; , ; Crawley, Charles C; Craig, Jenny J; Scott, Mike A MA; Hodkinson, Clare C; Baxter, Joanna J; Rad, Roland R; Forsyth, Duncan R DR; Quail, Michael A MA; Zeggini, Eleftheria E; Ouwehand, Willem W; Varela, Ignacio I; Vassiliou, George S GS
Publication Date: 2015-03-03

Variant appearance in text: IDH1: P95L
PubMed Link: 25732814
Variant Present in the following documents:
  • main.pdf
View BVdb publication page