ALK NP_004295.2:p.F1245L

Preferred Label : ALK NP_004295.2:p.F1245L;

NCIt synonyms : CD246 Antigen Phe1245Leu; ALK Phe1245Leu; ALK Tyrosine Kinase Receptor F1245L; Anaplastic Lymphoma Kinase F1245L; NP_004295.2:p.F1245L; ALK p.F1245L; CD246 Antigen F1245L; ALK F1245L; ALK Tyrosine Kinase Receptor Phe1245Leu; Anaplastic Lymphoma Kinase Phe1245Leu; NP_004295.2:p.Phe1245Leu; ALK NP_004295.2:p.Phe1245Leu; ALK p.Phe1245Leu;

NCIt definition : A change in the amino acid residue at position 1245 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by leucine.;

NCI Metathesaurus CUI : CL544809;

Details

Origin ID

C146876;

UMLS CUI

C4687531;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- ALK Gene Mutation [NCIt concept]
- ALK NM_004304.4:c.3733T>C [NCIt concept]
- ALK NM_004304.4:c.3735C>A [NCIt concept]
- ALK NM_004304.4:c.3735C>G [NCIt concept]
gene_product_variant_of_gene_product
- ALK Tyrosine Kinase Receptor [NCIt concept]
molecular_abnormality_involves_gene
- ALK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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