EGFR NM_005228.3:c.2309_2310ins14

MedGen UID:: 475977
•Concept ID:: C3274344
•: Cell or Molecular Dysfunction

Synonyms:

EGFR c.2309_2310ins14; EGFR c.2309_2310insATGGCCAGCGTGGA; EGFR NM_005228.3:c.2309_2310insATGGCCAGCGTGGA; Epidermal Growth Factor Receptor Gene c.2309_2310ins14; ERBB c.2309_2310ins14; ERBB1 c.2309_2310ins14; HER1 c.2309_2310ins14; NM_005228.3:c.2296_2309dup; NM_005228.3:c.2309_2310ins14; NM_005228.3:c.2309_2310insATGGCCAGCGTGGA

Definition

An insertion of 14 nucleotides, ATGGCCAGCGTGGA, between position 2309 and 2310 of the coding sequence of the EGFR gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEGFR NM_005228.3:c.2309_2310ins14

Molecular Genetic Variation
- Gene Abnormality
  - Receptor Tyrosine Kinase Gene Mutation
    - EGFR Gene Mutation
      - EGFR Exon 20 Mutation
        EGFR Exon 20 Deletion Mutation
        EGFR NM_005228.3:c.2309_2310ins14

Recent clinical studies

Diagnosis

Detection of an EGFR mutation in cytological specimens of lung adenocarcinoma.

Mohar B, Smojver Ježek S, Rajković Molek K, Štemberger C, Kurpis M, Kupanovac Ž, Samaržija M, Jonjić N, Grahovac B
Cytopathology 2016 Dec;27(6):444-451. Epub 2016 Mar 18 doi: 10.1111/cyt.12325. PMID: 26990359

MedGen

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EGFR NM_005228.3:c.2309_2310ins14

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Practice guidelines

Recent activity