Pompe disease GAA variant database
  2. List of variants
  3. Reported patients [Lookup other mutation]
Back to VariantsVariants [2]
Link to Pubmed Location DNA nomenclature RNA nomenclature Protein nomenclature Type of variant DNA Type of variant RNA Type of variant Protein MAF RS number Biochemical evidence of pathogenicity Splicing and translation prediction Biochemical evidence of CRIM status Prediction of CRIM status Number of patients Id Predicted severity Phenotype with null allele CRIM status Missense prediction (Mutation Taster) Missense prediction (SIFT) Missense prediction (Align GVGD)
PubMed CCDC40 and GAA exon 1 Ch37/hg19 chr17:78,059,821_ 78,076,592del r.0 p.? deletion Deletion (intron variant) No category MAF not reported no effect on splicing no expression found in allele specific PCR protein is not expressed 2 very severe Classic infantile Unknown
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Link to
patients 		Allele 1 DNA Allele 2
Location 		Allele 2 DNA Allele 2
Phenotype with a null allele 		Phenotype
of patient 		Age of
Onset 		Gender Age at
analysis 		Cardiomyopathy Liver/
Spleen 		Ventilatory
support 		Respiratory
problems 		Wheelchair
dependency 		Mobility
problems 		(Kypho)
Scoliosis 		Ptosis Scapular
winging 		Cerebral vessels
anomalies 		No of patients
reported 		Country/Region
PubMed Ch37/hg19 chr17:78,059,821_ 78,076,592del intron 16 c.2331+2T>A Classic infantile Classic infantile <1 month + 1 Netherlands
The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference the following article if you use this database for research purposes:
Niño, MY, in 't Groen, SL, Bergsma, AJ, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854

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