Pompe disease GAA variant database

Variants

 
intron 3 
c.693-559C>T 
r.(=) 
p.? 
Substitution 
Substitution (intron variant) 
No category 
Likely benign 
Non-pathogenic 
Unknown 
Positive 
MAF is over 1% 
rs12602422 
 
no effect on splicing 
 
protein is expressed 
 
 
 
 

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 one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, 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


www.pompecenter.nl