Congenital disorder of glycosylation, type IIl
OMIM:606977Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | COG6 |
|---|---|
| Reference transcript | NM_020751.2 |
| DNA Change | c.1646G>T |
| A.A. Change | p.Gly549Val |
| Exon/Intron | exon 16 |
| Mutation Type | substitution |
| Reference | Huybrechts S, De Laet C, Bontems P, Rooze S, Souayah H, Sznajer Y, Sturiale L, Garozzo D, Matthijs G, Ferster A, Jaeken J, Goyens P.Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. JIMD Rep. 2012;4:103-8. |