rs1450426641

This variant is located in the GBA1 gene.

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ClinVar annotation

Pathogenic★★★☆
4 submitters9 publications

not provided; Gaucher disease; 7 conditions

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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