EGFR NP_005219.2:p.G719X

MedGen UID:: 823080
•Concept ID:: C3830332
•: Cell or Molecular Dysfunction

Synonyms:

Activating G719X Mutation; EGFR exon 18 G719X; EGFR G719 Mutation; EGFR G719X; EGFR Gly719Xxx; EGFR NP_005219.2:p.Gly719Xxx; EGFR p.G719X; Epidermal Growth Factor Receptor G719X; NP_005219.2:p.G719X; NP_005219.2:p.Gly719Xxx; Proto-Oncogene c-ErbB-1 G719X; Receptor Tyrosine-Protein Kinase erbB-1 G719X

Definition

A change in the amino acid residue at position 719 in the epidermal growth factor receptor protein where glycine has been replaced by another amino acid. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEGFR NP_005219.2:p.G719X

Molecular Abnormality
- Molecular Sequence Variation
  - Gene Product Sequence Variation
    - EGFR Protein Variant
      - EGFR NP_005219.2:p.G719X
        EGFR NP_005219.2:p.G719A
        EGFR NP_005219.2:p.G719C
        EGFR NP_005219.2:p.G719D
        EGFR NP_005219.2:p.G719S
        EGFR NP_005219.2:p.G719V

Supplemental Content

Practice guidelines

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