rs1575466167

This variant is located in the JAGN1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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About JAGN1

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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