Variants

Pompe disease GAA variant database

Variants

Link to Pubmed

Location

exon 1A, 5' UTR

DNA nomenclature

c.-260G>C

RNA nomenclature

r.(-260g>c)

Protein nomenclature

p.?

Type of variant DNA

Substitution

Type of variant RNA

Substitution

Type of variant Protein

No category

ACMG classification

Likely benign

Predicted severity

Non-pathogenic

Phenotype with null allele

Unknown

CRIM status

Positive

MAF

MAF is over 1%

RS number

rs2304849

Biochemical evidence of pathogenicity

Splicing and translation prediction

no effect on splicing

Biochemical evidence of CRIM status

Prediction of CRIM status

protein is expressed

Missense prediction (Mutation Taster)

Missense prediction (SIFT)

Missense prediction (Align GVGD)

Number of patients

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

www.pompecenter.nl