Variant (rsID / SNP)
rs2230288
rs2230288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,206,167. Clinical significance in the table: Benign/Likely benign; risk factor.
Reference-table entries
GBA1Benign
- Clinical significance (as recorded)
- Benign/Likely benign; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:155206167
- Cytoband
- 1q22
- HGVS
- NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
- Allele change
- Missense_E365K
Associated conditions / phenotypes
Parkinsonism|Parkinsonism|Tremor|Rigidity|Cogwheel rigidity|6 conditions|Gaucher disease|Gaucher disease perinatal lethal|Parkinson disease, late-onset
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.