Variant: rs796051877 

    present in Gene: GAA
    present in Chromosome: 17
    Position on Chromosome: 80110055
    Alleles of this Variant: G/A

rs796051877 in GAA gene and Absent reflex PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Cardiomegaly PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Dyspnea PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Foramen Ovale, Patent PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Glycogen storage disease type II PMID 26160551 2015 We report a previously undescribed association of c.1437G>A intron 9 substitution on the GAA gene with severe infantile-onset Pompe disease in a deceased proband and carrier status in four of five surviving family members.

rs796051877 in GAA gene and Hepatomegaly PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Hypertrophic Cardiomyopathy PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Motor delay PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Pediatric failure to thrive PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs796051877 in GAA gene and Pneumonia PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.