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  • The following terms were not found in MedGen: 3%20toe%20syndactyly%22%5BClinical%20Features%5D%20OR%201645640%5Buid%5D, %222-3%20toe%20syndactyly%22%5BClinical%20Features%5D%20OR%201645640%5Buid%5D.

EGFR NP_005219.2:p.R222C

MedGen UID:
1780173
•Concept ID:
C5447783
•
Cell or Molecular Dysfunction
Synonyms: Activating R222C Mutation; EGFR Arg222Cys; EGFR NP_005219.2:p.Arg222Cys; EGFR p.Arg222Cys; EGFR p.R222C; EGFR R222C; EGFR R222C Mutation; Epidermal Growth Factor Receptor Arg222Cys; Epidermal Growth Factor Receptor R222C; NP_005219.2:p.Arg222Cys; NP_005219.2:p.R222C; Proto-Oncogene c-ErbB-1 Arg222Cys; Proto-Oncogene c-ErbB-1 R222C; Receptor Tyrosine-Protein Kinase erbB-1 Arg222Cys; Receptor Tyrosine-Protein Kinase erbB-1 R222C

Definition

A change in the amino acid residue at position 222 in the epidermal growth factor receptor protein where arginine has been replaced by cysteine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEGFR NP_005219.2:p.R222C

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