rs2125060281

This variant is located in the JAGN1 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

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]

View all JAGN1 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

Loading comments…