IDH1 c.439C>A ;(p.P147T)

Variant ID: 2-209110124-G-T

NM_005896.2(IDH1):c.439C>A;(p.P147T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Scientific Reports
Park, Sooyong S; Yun, Jiwon J; Choi, Sung Yoon SY; Jeong, Dajeong D; Gu, Ja-Yoon JY; Lee, Jee-Soo JS; Seong, Moon-Woo MW; Chang, Yoon Hwan YH; Yun, Hongseok H; Kim, Hyun Kyung HK
Publication Date: 2023-05-04

Variant appearance in text: IDH1: 439C>A; Pro147Thr
PubMed Link: 37142644
Variant Present in the following documents:
  • 41598_2023_33928_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Neuro-Oncology Advances
Cantero, Diana D; Mollejo, Manuela M; Sepúlveda, Juan M JM; D'Haene, Nicky N; Gutiérrez-Guamán, Myriam J MJ; Rodríguez de Lope, Ángel Á; Fiaño, Concepción C; Castresana, Javier S JS; Lebrun, Laetitia L; Rey, Juan A JA; Salmon, Isabelle I; Meléndez, Bárbara B; Hernández-Laín, Aurelio A
Publication Date: 2020

Variant appearance in text: IDH1: 439C>A; Pro147Thr
PubMed Link: 32642724
Variant Present in the following documents:
  • Main text
  • vdz059_suppl_suplementary_table_2.xlsx, sheet 1
  • vdz059.pdf
View BVdb publication page