Gene entry
JAGN1
jagunal vesicle mediated transporter 1
- Chromosome
- 3
- Cytoband
- 3p25.3
- Variants (rsID)
- 5
JAGN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.3). Its official name is “jagunal vesicle mediated transporter 1”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs35365817Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- rs61746084Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- rs587777727Conflicting interpretationssingle nucleotide variantAutosomal recessive severe congenital neutropenia due to JAGN1 deficiency|Severe congenital neutropenia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.