LOINC
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LP228449-7FLT3 gene internal tandem duplicationActive

Description

LP228449-7   FLT3 gene internal tandem duplication
The FLT3 gene (fms-related tyrosine kinase 3) [HGNC Gene ID:3765] is located on chromosome 13q12. This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015] [NCBI Gene ID:2322] FLT3 mutations occur in approximately 1/3 of patients with AML. About 70% are internal tandem duplications, and the rest are due to variants in the tyrosine kinase domain of FLT3, primarily at Asp835 (D835). [PMID:17124058] Source: Regenstrief LOINC

Basic Part Properties

Name
FLT3 gene internal tandem duplication
Type
Component
Created On
2016-09-13
Construct for LOINC Short Name
FLT3 gene internal tandem duplication

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