Gene entry
ELANE
elastase, neutrophil expressed
- Chromosome
- 19
- Cytoband
- 19p13.3
- Variants (rsID)
- 3
ELANE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.3). Its official name is “elastase, neutrophil expressed”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs137854448Pathogenicsingle nucleotide variantNeutropenia, severe congenital, 1, autosomal dominant|Neutropenia, severe congenital, 1, autosomal dominant|Cyclical neutropenia
- rs137854451Pathogenicsingle nucleotide variantNeutropenia, severe congenital, 1, autosomal dominant|Cyclical neutropenia|Neutropenia, severe congenital, 1, autosomal dominant|Cyclical 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.