U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

KIT NP_000213.1:p.S590I

MedGen UID:
1719649
•Concept ID:
C5237745
•
Cell or Molecular Dysfunction
Synonyms: c-KIT p.S590I; c-KIT p.Ser590Ile; c-KIT S590I; c-KIT Ser590Ile; CD117 Antigen S590I; CD117 Antigen Ser590Ile; KIT NP_000213.1:p.Ser590Ile; KIT p.S590I; KIT p.Ser590Ile; KIT S590I; KIT Ser590Ile; Mast/Stem Cell Growth Factor Receptor Kit S590I; Mast/Stem Cell Growth Factor Receptor Kit Ser590Ile; NP_000213.1:p.S590I; NP_000213.1:p.Ser590Ile; Proto-Oncogene c-Kit S590I; Proto-Oncogene c-Kit Ser590Ile; Proto-Oncogene Tyrosine-Protein Kinase Kit S590I; Proto-Oncogene Tyrosine-Protein Kinase Kit Ser590Ile; Stem Cell Factor Receptor S590I; Stem Cell Factor Receptor Ser590Ile; Tyrosine-Protein Kinase Kit S590I; Tyrosine-Protein Kinase Kit Ser590Ile

Definition

A change in the amino acid residue at position 590 in the mast/stem cell growth factor receptor Kit protein where serine has been replaced by isoleucine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKIT NP_000213.1:p.S590I

Recent clinical studies

Diagnosis

Extragastrointestinal stromal tumor of the abdominal subcutaneous tissue: Report of a very rare case at an unusual site.
He X, Chen N, Lin L, Wang C, Wang Y
J Int Med Res 2017 Jun;45(3):1273-1278. Epub 2017 May 28 doi: 10.1177/0300060517706577. PMID: 28553740Free PMC Article

Supplemental Content

Table of contents

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...