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IDH1 (p.R132C)

Variant Data

Location

  • HGVS: ENST00000345146:c.394C>T
  • Reference Version: GRCh37
  • Chromosome: 2
  • Start: 209113113
  • Stop: 209113113
  • Strand: -1
  • Transcript: ENST00000345146 (ensembl - 74_37)
  • Gene: IDH1 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
acute myeloid leukemia Mardis et al., 2009, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
acute myeloid leukemia Zou et al., 2010, Biochem. Biophys. Res. Commun. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
acute myeloid leukemia Döhner et al., 2011, Hematology Am Soc Hematol Educ Program My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
acute myeloid leukemia Chotirat et al., 2012, J Hematol Oncol My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
acute myeloid leukemia Patel et al., 2012, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
acute myeloid leukemia Shih et al., 2012, Nat. Rev. Cancer My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
astrocytoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
brain glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
glioblastoma multiforme Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
acute myeloid leukemia Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
skin melanoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
prostate adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
hepatocellular carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
multiple myeloma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
brain stem glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
myelodysplastic syndrome Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
medulloblastoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
breast cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
urinary bladder urothelial carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
salivary gland adenoid cystic carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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