rs386834236
This is a downstream gene variant variant in the GAA gene.
▶ClinVar annotation
Cardiovascular phenotype; GAA-related disorder; GLYCOGEN STORAGE DISEASE II, ADULT FORM; Glycogen storage disease due to acid maltase deficiency, late-onset; Glycogen storage disease, type II (GSD2); Glycogen storage disease, type IV (GSD4); Myopathy; See cases
View on ClinVar →▶Research that mentions this SNP (1)
▶Case reportN=25Unknown
A molecular epidemiological study of 25 Chinese infantile-onset GSD II (Pompe's disease) patients demonstrates that the high frequency of the C1935A mutation (80% allele frequency) results from a founder effect, supported by haplotype analysis showing 95% of mutant alleles linked to a specific haplotype (1111, χ² = 66.018, P<0.005) versus only 17% frequency in 42 normal controls.
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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