G6PC3
Gene name: glucose 6 phosphatase, catalytic, 3OMIM ID: 611045
Chromosome location: 17q21.31
Mutations
| Disease/Phenotype | Neutropenia, severe congenital 4, autosomal recessive |
|---|---|
| Reference transcript | NM_138387.3 |
| DNA Change | c.257delA |
| A.A. Change | p.Glu86GlyfsX31 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Arostegui JI, de Toledo JS, Pascal M, Garcia C, Yague J, Diaz de Heredia C.A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood. 2009 Aug 20;114(8):1718-9. |