Variant (rsID / SNP)
rs80356769
rs80356769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,205,563. 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
- 1:155205563
- Cytoband
- 1q22
- HGVS
- NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
- Allele change
- Missense_V433L
Associated conditions / phenotypes
Gaucher disease type I|Gaucher disease type III|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.