Variant (rsID / SNP)
rs76763715
rs76763715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,205,634. Clinical significance in the table: Pathogenic/Likely pathogenic; risk factor.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:155205634
- Cytoband
- 1q22
- HGVS
- NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
- Allele change
- Missense_N409S
Associated conditions / phenotypes
Gaucher 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.