Gene entry
GBA2
glucosylceramidase beta 2
- Chromosome
- 9
- Cytoband
- 9p13.3
- Variants (rsID)
- 6
GBA2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9p13.3). Its official name is “glucosylceramidase beta 2”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs34312177Benignsingle nucleotide variantSpastic paraplegia
- rs34353044Benignsingle nucleotide variantSpastic paraplegia|Hereditary spastic paraplegia
- rs142602400Conflicting interpretationssingle nucleotide variantSpastic paraplegia
- rs200894732Uncertain significancesingle nucleotide variantSpastic paraplegia|Hereditary spastic paraplegia
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.