rs201499639
This variant is located in the GBA1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout GBA1
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
View all GBA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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