Disease | Gaucher |
Gene | GBA |
Mutation | c.1448T>C |
Samples tested | 1200 |
Heterozygote detected in this study | T/C: 2 |
Carrier frequency | 1:600 |
allele frequency | (T>C) 1:1200 |
Wild-type allele frequency | T: 0.97113 |
Mutant allele frequency | C: 0.02887 |
Transcript identification | ENST00000327247.5 |
Mutation type | Missense |
Mutation effect | Glucocerebrosidase enzyme deficiency |
Promising therapeutic approaches | Enzyme Replacement Therapy (ERT) |