{{Rsnum
|rsid=1042393
|Gene=GAA
|Chromosome=17
|position=80105798
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.382
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GAA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 1.9 | 49.1 | 49.1
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 30.2 | 56.6 | 13.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1042393
|allele=G
|frequency=
|uid=1103645390987
|type=homozygous_SNP
|hugo=GAA
|ensembl gene=ENSG00000171298
|ensembl transcript=ENST00000302262
|sift=TOLERATED
|disease=Defects in GAA are the cause of glycogen storage disease II (GSD-II) (MIM:232300); also known as Pompe disease. GSD-II is an autosomal recessive disorder with a broad clinical spectrum. At one end there are patients presenting at birth with massive accumulation of glycogen in muscle, heart and liver and with a life expectancy of less than two years. Cardiorespiratory insufficiency is the major cause of death in this infantile form of GSD-II. At the opposite end of the spectrum there are patients who are free of clinical symptoms for most of their life but who develop finally a slowly progressive myopathy. Often the first manifestation is a weakness of the limb and girdle muscle, but some patients present respiratory insufficiency first. There is a third clinical phenotype, the juvenile form.
}}

{{ neighbor
| rsid = 11150843
| distance = 72
}}

{{GET Evidence
|gene=GAA
|aa_change=His199Arg
|aa_change_short=H199R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042393
|overall_frequency_n=7238
|overall_frequency_d=10758
|overall_frequency=0.672802
|n_genomes=46
|n_genomes_annotated=0
|n_haplomes=63
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}