Variant: rs1800312 

    present in Gene: GAA
    present in Chromosome: 17
    Position on Chromosome: 80117016
    Alleles of this Variant: G/A;C

rs1800312 in GAA gene and Glycogen Storage Disease PMID 25093132 2014 Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

PMID 28433475 2017 Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population.

PMID 9535769 1998 Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

PMID 24444888 2014 Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.

PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.

PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

PMID 27099502 2016 Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report.

PMID 21232767 2011 Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

PMID 7981676 1994 A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

PMID 18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

rs1800312 in GAA gene and Glycogen storage disease type II PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.

PMID 18458862 2008 The genotype/phenotype correlations indicated that c.2238G > C (p.W746C) is correlated with juvenile- onset GSDII and that c.872T > C (p.L291P) and c.1411_1414del (p.E471fsX5) are correlated with infantile-onset GSDII.

PMID 27099502 2016 Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report.

PMID 25093132 2014 Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

PMID 7981676 1994 A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

PMID 21232767 2011 Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

PMID 25741864 2015 CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

PMID 22613277 2012 The impact of antibodies in late-onset Pompe disease: a case series and literature review.

PMID 16860134 2006 Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

PMID 29122469 2017 Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

PMID 9535769 1998 Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.