Gene entry
GBA
glucosylceramidase beta 1
- Chromosome
- 1
- Cytoband
- 1q22
- Variants (rsID)
- 19
GBA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q22). Its official name is “glucosylceramidase beta 1”. The reference table lists 19 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs76539814Pathogenicsingle nucleotide variantGaucher disease type I|Gaucher disease type II|Gaucher disease
- rs121908300Uncertain significancesingle nucleotide variantGaucher disease type I|Gaucher disease
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.