| 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 | exon 2 | c.363G>A | r.(363g>a) | p.(=) | Substitution | Substitution | Substitution (silent) | MAF not reported | no effect on splicing | protein is expressed | 75 | Non-pathogenic | Unknown | Positive |
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.363G>A | unknown | 0 |
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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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www.pompecenter.nl |
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