JAGN1 Chromosome 3
Jagunal vesicle mediated transporter 1
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What This Gene Does
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]
Associated Conditions (3)
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Inborn genetic diseases
Severe congenital neutropenia
Key Variants
RS200485958
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Health Risk
RS587777727
Conflicting classifications of pathogenicity
Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia
Health Risk
RS587777728
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Health Risk
RS587777729
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Health Risk
RS587777731
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Health Risk
RS748123071
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Health Risk
RS777966677
Conflicting classifications of pathogenicity
Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia
Health Risk
RS786205704
Conflicting classifications of pathogenicity
Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia
Health Risk
RS755763965
Likely pathogenic
Health Risk
RS587777730
Pathogenic
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Health Risk
RS786205705
Pathogenic
Severe congenital neutropenia, Severe congenital neutropenia
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200485958 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| RS587777727 | Health Risk | Conflicting classifications of pathogenicity | Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia |
| RS587777728 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| RS587777729 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| RS587777731 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| RS748123071 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| RS777966677 | Health Risk | Conflicting classifications of pathogenicity | Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia |
| RS786205704 | Health Risk | Conflicting classifications of pathogenicity | Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia |
| RS755763965 | Health Risk | Likely pathogenic | — |
| RS587777730 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| RS786205705 | Health Risk | Pathogenic | Severe congenital neutropenia, Severe congenital neutropenia |