Variant (rsID / SNP)
rs121908311
rs121908311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,205,614. Clinical significance in the table: Pathogenic.
Reference-table entries
GBA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:155205614
- Cytoband
- 1q22
- HGVS
- NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
- Allele change
- Missense_G416S
Associated conditions / phenotypes
Gaucher 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.