rs780705604

This variant is located in the COG6 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

COG6-congenital disorder of glycosylation;Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

View on ClinVar →

About COG6

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

View all COG6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…