rs374476196
This variant is located in the GAA gene.
▶ClinVar annotation
Glycogen storage disease, type II; not provided; Cardiovascular phenotype; Familial cancer of breast; not specified
View on ClinVar →About GAA
This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
View all GAA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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