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MLH1 (p.V384D)

Variant Data

Location

  • HGVS: ENST00000231790:c.1151T>A
  • Reference Version: GRCh37
  • Chromosome: 3
  • Start: 37067240
  • Stop: 37067240
  • Strand: 1
  • Transcript: ENST00000231790 (ensembl - 74_37)
  • Gene: MLH1 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: A
  • Amino Acid: p.V384D
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.1151
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
lung adenocarcinoma Chiu et al., 2015, Oncotarget Literature (View variants) likely pathogenic
gastric adenocarcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
lung adenocarcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
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