rs2526024078

This variant is located in the VPS45 gene.

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ClinVar annotation

Likely Benign★☆☆☆

2 submitters1 publication

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

About VPS45

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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