Gene Location [1]
Metabolic signaling, Chromatin remodeling/DNA methylation

IDH1 Mutation is present in 2.75% of AACR GENIE cases, with anaplastic astrocytoma, oligodendroglioma, astrocytoma, conventional glioblastoma multiforme, and anaplastic oligodendroglioma having the greatest prevalence [4].

Top Disease Cases with IDH1 Mutation

Significance of IDH1 Mutation in Diseases

Malignant Solid Tumor +

Acute Myeloid Leukemia +

Glioma +

Malignant Glioma +

Cholangiocarcinoma +

Anaplastic Astrocytoma +

Lymphoma +

Breast Carcinoma +

WHO Grade II Glioma +

WHO Grade III Glioma +

Chondrosarcoma +

Glioblastoma +

Myelodysplastic Syndromes +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Ovarian Carcinoma +

Ependymoma +

Mixed Glioma +

Anaplastic Oligodendroglioma +

Oligoastrocytoma +

Oligodendroglioma +

Diffuse Astrocytoma +

Low Grade Glioma +

Astrocytoma +

Diffuse Glioma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

High-Grade Glioma, NOS +

Myeloproliferative Neoplasm, Unclassifiable +

Leukemia +

Hematopoietic And Lymphoid Malignancy +

Melanoma +

Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Diffuse Midline Glioma, H3 K27M-Mutant +

Essential Thrombocythemia +

Primary Brain Neoplasm +

Myelofibrosis Transformation In Essential Thrombocythemia +

Primary Myelofibrosis +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelofibrosis +

Schwannoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Sarcoma +

Gallbladder Carcinoma +

Chronic Myelomonocytic Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Prostate Carcinoma +

Head And Neck Carcinoma +

Gastric Carcinoma +

Multiple Myeloma +

Gastrointestinal Stromal Tumor +

Pleural Mesothelioma +

Clear Cell Renal Cell Carcinoma +

Renal Cell Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Histiocytosis +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Meningioma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Polycythemia Vera +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Primary Central Nervous System Lymphoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.