COG7
Gene name: component of oligomeric golgi complex 7OMIM ID: 606978
Chromosome location: 16p12.2
Mutations
| Disease/Phenotype | Congenital disorder of glycosylation, Type IIe |
|---|---|
| Reference transcript | NM_153603.3 |
| DNA Change | c.169+4A>C |
| A.A. Change | |
| Exon/Intron | intron 1 |
| Mutation Type | substitution |
| Reference | Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA.A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet. 2007 Jun;15(6):638-45. |
| Disease/Phenotype | Congenital disorder of glycosylation, Type IIe |
|---|---|
| Reference transcript | NM_153603.3 |
| DNA Change | c.169+4A>C |
| A.A. Change | |
| Exon/Intron | intron 1 |
| Mutation Type | substitution |
| Reference | Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH.Molecular and clinical characterization of a Moroccan Cog7 deficient patient. Mol Genet Metab. 2007 Jun;91(2):201-4. |