rs121913488
This is a variant in the FLT3 gene that changes a aspartate to an asparagine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Single nucleotide polymorphism of Wilms’ tumor 1 gene rs16754 in Korean patients with cytogenetically normal acute myeloid leukemiaAssociationN=73Yunsuk Choi et al.(2012)· Annals of Hematology
This study examined the WT1 SNP rs16754 in 73 Korean patients with cytogenetically normal acute myeloid leukemia (CN-AML) and found significant differences in allele frequencies compared to Western populations (G allele 73.3% in Korean AML patients vs. 13.7% in German patients, P<0.001). However, in Korean patients, the WT1 rs16754 SNP showed no significant impact on clinical outcomes including overall survival (P=0.550), relapse-free survival (P=0.514), and complete remission rates (85.3% for GA/AA vs. 84.6% for GG, P=0.936).
▶Analysis of mutational status, SNP rs16754, and expression levels of Wilms tumor 1 (WT1) gene in acute promyelocytic leukemiaAssociationN=103Girish Chander Gaur et al.(2012)· Annals of Hematology
Analysis of 103 acute promyelocytic leukemia patients identified WT1 mutations in 4% and SNP rs16754 in 29%, with the homozygous GG genotype associated with higher WT1 mRNA expression (p=0.018). FLT3 mutations were found in 37% of patients and significantly correlated with elevated WT1 transcript levels (p=0.004), whereas WT1 mutational patterns in APL resemble pediatric AML rather than adult AML.
About FLT3
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]
View all FLT3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…