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PIK3CA (p.M1043I)

Variant Data

Location

  • HGVS: ENST00000263967:c.3129G>T
  • Reference Version: GRCh37
  • Chromosome: 3
  • Start: 178952074
  • Stop: 178952074
  • Strand: 1
  • Transcript: ENST00000263967 (ensembl - 74_37)
  • Gene: PIK3CA ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: T
  • Amino Acid: p.M1043I
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.3129
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
colorectal cancer Ikenoue et al., 2005, Cancer Res. Literature (View variants) likely pathogenic
colorectal cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
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