GLA
Gene name: galactosidase, alphaOMIM ID: 300644
Chromosome location: Xq22
Mutations
| Disease/Phenotype | Fabry disease |
|---|---|
| DNA Change | |
| A.A. Change | p.Glu212X  |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | L. Chabraoui, H Talboui, A Berraho, K Azibi, J Dussaud, L Poenaru and C Caillaud, A novel nonsense mutation Q212X in a Moroccan Fabry patient J. Inherit Metab Dis. 26 (2003) suppl. 2 p191 |
Variant not named according to HGVS recommendations