rs587777728

This is a variant in the JAGN1 gene that changes a histidine to an tyrosine.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters4 publications

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency; Severe congenital neutropenia (SCN)

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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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