Gene entry
CHIT1
chitinase 1
- Chromosome
- 1
- Cytoband
- 1q32.1
- Variants (rsID)
- 15
CHIT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q32.1). Its official name is “chitinase 1”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs2297950Benignsingle nucleotide variantChitotriosidase deficiency
- rs9943208Benignsingle nucleotide variantChitotriosidase deficiency
- rs140228721Conflicting interpretationssingle nucleotide variantChitotriosidase deficiency
- rs146692911Conflicting interpretationssingle nucleotide variantChitotriosidase deficiency
- rs183706407Conflicting interpretationssingle nucleotide variantChitotriosidase deficiency
- rs2297947Conflicting interpretationssingle nucleotide variantChitotriosidase deficiency
- rs200995061Uncertain significancesingle nucleotide variantChitotriosidase deficiency
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.