Variant (rsID / SNP)
rs79653797
rs79653797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,208,420. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GBA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:155208420
- Cytoband
- 1q22
- HGVS
- NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
- Allele change
- Missense_R159Q
Associated conditions / phenotypes
Gaucher 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.