rs6681346

This variant is located in the COG2 gene.

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Congenital disorder of glycosylation, type IIq; not provided; not specified

About COG2

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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