rs387907203

This is a variant in the COG4 gene that changes a leucine to an arginine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

COG4-congenital disorder of glycosylation

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About COG4

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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