KIT NP_000213.1:p.L831P

Preferred Label : KIT NP_000213.1:p.L831P;

NCIt synonyms : Proto-Oncogene Tyrosine-Protein Kinase Kit Leu831Pro; c-KIT L831P; c-KIT p.L831P; Proto-Oncogene c-Kit L831P; Stem Cell Factor Receptor Leu831Pro; Tyrosine-Protein Kinase Kit L831P; Mast/Stem Cell Growth Factor Receptor Kit Leu831Pro; Proto-Oncogene Tyrosine-Protein Kinase Kit L831P; NP_000213.1:p.Leu831Pro; KIT Leu831Pro; KIT p.Leu831Pro; Stem Cell Factor Receptor L831P; Mast/Stem Cell Growth Factor Receptor Kit L831P; NP_000213.1:p.L831P; KIT NP_000213.1:p.Leu831Pro; CD117 Antigen Leu831Pro; KIT L831P; KIT p.L831P; c-KIT Leu831Pro; c-KIT p.Leu831Pro; Proto-Oncogene c-Kit Leu831Pro; Tyrosine-Protein Kinase Kit Leu831Pro; CD117 Antigen L831P;

NCIt definition : A change in the amino acid residue at position 831 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by proline.;

NCI Metathesaurus CUI : CL556317;

Details

Origin ID

C155715;

UMLS CUI

C4722167;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- KIT Gene Mutation [NCIt concept]
- KIT NM_000222.2:c.2492T>C [NCIt concept]
gene_product_variant_of_gene_product
- Mast/Stem Cell Growth Factor Receptor Kit [NCIt concept]
molecular_abnormality_involves_gene
- KIT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients