GBA
Gene name: glucosidase, beta, acidOMIM ID: 606463
Chromosome location: 1q22
Mutations
| Disease/Phenotype | Gaucher disease |
|---|---|
| Reference transcript | NM_001005741.2 |
| DNA Change | c.680A>G |
| A.A. Change | p.Asn227Ser |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Biegstraaten M, van Schaik IN, Aerts JM, Langeveld M, Mannens MM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CE.A monozygotic twin pair with highly discordant Gaucher phenotypes. Blood Cells Mol Dis. 2011 Jan 15;46(1):39-41. |