rs1474696039

This variant is located in the FES gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About FES

This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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