Gaucher disease
OMIM:230800Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | GBA |
|---|---|
| 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. |