Variant (rsID / SNP)
rs1064651
rs1064651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,205,518. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:155205518
- Cytoband
- 1q22
- HGVS
- NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
- Allele change
- Missense_D448H
Associated conditions / phenotypes
Gaucher 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.