Gene Location [1]
Metabolic signaling, Chromatin remodeling/DNA methylation
Variant Type
Substitution - Missense

IDH1 Codon 132 Missense is present in 2.29% of AACR GENIE cases, with anaplastic astrocytoma, oligodendroglioma, astrocytoma, anaplastic oligodendroglioma, and conventional glioblastoma multiforme having the greatest prevalence [4].

Top Disease Cases with IDH1 Codon 132 Missense

Significance of IDH1 Codon 132 Missense in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Malignant Solid Tumor +

Myeloproliferative Neoplasm +

WHO Grade II Glioma +

Glioma +

Diffuse Astrocytoma +

Anaplastic Astrocytoma +

Intrahepatic Cholangiocarcinoma +

Chondrosarcoma +

Malignant Glioma +

Bile Duct Carcinoma +

Malignant Hepatobiliary Neoplasm +

Myeloid Neoplasm +

Hematopoietic And Lymphoid Malignancy +

Cancer +

Acute Promyelocytic Leukemia +

Chronic Myeloid Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Chronic Myelomonocytic Leukemia +

Hepatocellular Carcinoma +


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.