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Gene entry

GBA1

glucosylceramidase beta 1

Chromosome
1
Cytoband
1q22
Variants (rsID)
16

GBA1 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 16 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs2230288Benignsingle nucleotide variantParkinsonism|Parkinsonism|Tremor|Rigidity|Cogwheel rigidity|6 conditions|Gaucher disease|Gaucher disease perinatal lethal|Parkinson disease, late-onset
  • rs367968666Conflicting interpretationssingle nucleotide variantGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Gaucher disease perinatal lethal|Gaucher disease|Gaucher disease type I
  • rs75548401Conflicting interpretationssingle nucleotide variantParkinson disease, late-onset|Gaucher disease perinatal lethal|Gaucher disease
  • rs77369218Likely pathogenicsingle nucleotide variantGaucher disease type III|Gaucher disease|Gaucher disease type I
  • rs1064651Pathogenicsingle nucleotide variantGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Gaucher disease perinatal lethal|Gaucher disease|7 conditions|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Parkinson disease, late-onset
  • rs121908309Pathogenicsingle nucleotide variantGaucher disease perinatal lethal|Gaucher disease|Gaucher disease type I
  • rs121908311Pathogenicsingle nucleotide variantGaucher disease type III|Gaucher disease type I|Gaucher disease|Gaucher disease type II|Gaucher disease type III|Gaucher disease type I|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Thrombocytopenia|Abnormal bleeding
  • rs121908312Pathogenicsingle nucleotide variantGaucher disease type I|Gaucher disease type III|Gaucher disease
  • rs364897Pathogenicsingle nucleotide variantGaucher disease type I|Gaucher disease type III|Gaucher disease|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III
  • rs387906315PathogenicDuplicationGaucher disease type I|Gaucher disease|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Parkinson disease, late-onset
  • rs76763715Pathogenicsingle nucleotide variantGaucher disease type I|Parkinson disease, late-onset|Dementia, Lewy body, susceptibility to|Gaucher disease|Rigidity|Akinesia|7 conditions|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Parkinson disease|Gaucher disease perinatal lethal|Thrombocytopenia|Abnormal bleeding|Lewy body dementia
  • rs78973108Pathogenicsingle nucleotide variantGaucher disease perinatal lethal|Gaucher disease|7 conditions|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Parkinson disease, late-onset
  • rs79653797Pathogenicsingle nucleotide variantGaucher disease perinatal lethal|Gaucher disease type I|Gaucher disease|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
  • rs80356769Pathogenicsingle nucleotide variantGaucher disease type I|Gaucher disease type III|Gaucher disease|7 conditions|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Parkinson disease, late-onset
  • rs80356771Pathogenicsingle nucleotide variantGaucher disease type III|Parkinson disease, late-onset|Gaucher disease type I|Gaucher disease type II|Gaucher disease|7 conditions|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III
  • rs80356772Pathogenicsingle nucleotide variantGaucher disease|Gaucher disease type I|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type II|Gaucher disease type III|Gaucher disease type I

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.