Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Congenital disorder of glycosylation, type IIl

OMIM:606977
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolCOG6
Reference transcriptNM_020751.2
DNA Changec.1646G>T
A.A. Changep.Gly549Val
Exon/Intronexon 16
Mutation Typesubstitution
ReferenceHuybrechts 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.