GALC
Gene name: galactosylceramidaseOMIM ID: 606890
Chromosome location: 14q31.3
Mutations
| Disease/Phenotype | Krabbe disease |
|---|---|
| Reference transcript | NM_000153.3 |
| DNA Change | c.1622G>A |
| A.A. Change | p.Trp541* |
| Exon/Intron | exon 14 |
| Mutation Type | substitution |
| Reference | Zerkaoui M, Ratbi I, Castellotti B, Gellera C, Lyahyai J, Kriouile Y, Sefiani A.
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. BMC Pediatr. 2015 Nov 13;15:182. doi: 10.1186/s12887-015-0490-9. |
| Disease/Phenotype | Krabbe disease |
|---|---|
| Reference transcript | NM_000153.3 |
| DNA Change | c.860G>A |
| A.A. Change | p.Cys287Tyr |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Zerkaoui M, Ratbi I, Castellotti B, Gellera C, Lyahyai J, Kriouile Y, Sefiani A.
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. BMC Pediatr. 2015 Nov 13;15:182. doi: 10.1186/s12887-015-0490-9. |