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DNMT3A (p.R882P)

Variant Data

Location

  • HGVS: ENST00000264709:c.2645G>C
  • Reference Version: GRCh37
  • Chromosome: 2
  • Start: 25457242
  • Stop: 25457242
  • Strand: -1
  • Transcript: ENST00000264709 (ensembl - 74_37)
  • Gene: DNMT3A ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
acute myeloid leukemia Ley et al., 2010, N. Engl. J. Med. My Cancer Genome (View variants) pathogenic My Cancer Genome
acute myeloid leukemia Döhner et al., 2011, Hematology Am Soc Hematol Educ Program My Cancer Genome (View variants) pathogenic My Cancer Genome
acute myeloid leukemia Vogt, 2012, Nat. Rev. Cancer My Cancer Genome (View variants) pathogenic My Cancer Genome
acute myeloid leukemia 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
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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