SEC23B
Gene name: Sec23 homolog B (S. cerevisiae)OMIM ID: 610512
Chromosome location: 20p11.23
Mutations
| Disease/Phenotype | Dyserythropoietic anemia, congenital, type II |
|---|---|
| Reference transcript | NM_006363.4 |
| DNA Change | c.325G>A |
| A.A. Change | p.Glu109Lys |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Amir A, Dgany O, Krasnov T, Resnitzky P, Mor-Cohen R, Bennett M, Berrebi A, Tamary H.E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. Acta Haematol. 2011;125(4):202-7. |