EGFR NP_005219.2:p.E709*

MedGen UID:: 475852
•Concept ID:: C3274219
•: Cell or Molecular Dysfunction

Synonyms:

EGFR E709fs*1; EGFR NP_005219.2:p.E709fs*1; EGFR NP_005219.2:p.Glu709fs*1; EGFR NP_005219.2:p.Glu709Ter; EGFR p.E709fs*1; Epidermal Growth Factor Receptor E709fs*1; NP_005219.2:p.Glu709fs*1; Proto-Oncogene c-ErbB-1 E709fs*1; Receptor Tyrosine-Protein Kinase erbB-1 E709fs*1

Definition

A change in the amino acid composition of the epidermal growth factor receptor protein where a frame shift mutation results in the placement of a stop codon just after the glutamic acid residue at position 709. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEGFR NP_005219.2:p.E709*

Molecular Abnormality
- Molecular Sequence Variation
  - Gene Product Sequence Variation
    - EGFR Protein Variant
      - EGFR NP_005219.2:p.E709*

Supplemental Content

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