COG8 Chromosome 16
Component of oligomeric golgi complex 8
Upload your DNA to see your personal genotypes for variants in COG8.
What This Gene Does
This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Components of oligomeric golgi complex
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000213380
Associated Conditions (3)
COG8-congenital disorder of glycosylation
Inborn genetic diseases
COG8-related disorder
Key Variants
RS113642086
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
Health Risk
RS138398268
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation
Health Risk
RS138741747
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-related disorder, COG8-congenital disorder of glycosylation
Health Risk
RS140736262
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
Health Risk
RS141435327
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
Health Risk
RS142169776
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation
Health Risk
RS143411142
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-related disorder, COG8-congenital disorder of glycosylation
Health Risk
RS144030835
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
Health Risk
RS146248068
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-related disorder, Inborn genetic diseases
Health Risk
RS149222287
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187905134
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
Health Risk
RS199504043
Conflicting classifications of pathogenicity
COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113642086 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS138398268 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation |
| RS138741747 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-related disorder, COG8-congenital disorder of glycosylation |
| RS140736262 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS141435327 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS142169776 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation |
| RS143411142 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-related disorder, COG8-congenital disorder of glycosylation |
| RS144030835 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS146248068 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-related disorder, Inborn genetic diseases |
| RS149222287 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS187905134 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS199504043 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS200765847 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation |
| RS202134146 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation |
| RS376659578 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS562484375 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS571595612 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS72795277 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS757877420 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation |
| RS761354764 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS762499740 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, Inborn genetic diseases, COG8-congenital disorder of glycosylation |
| RS977274573 | Health Risk | Conflicting classifications of pathogenicity | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS147051782 | Health Risk | Likely pathogenic | — |
| RS1597225261 | Health Risk | Likely pathogenic | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS201289118 | Health Risk | Likely pathogenic | COG8-related disorder, COG8-related disorder |
| RS766244312 | Health Risk | Likely pathogenic | COG8-congenital disorder of glycosylation, COG8-related disorder, COG8-congenital disorder of glycosylation |
| RS771045945 | Health Risk | Likely pathogenic | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS779899559 | Health Risk | Likely pathogenic | — |
| RS890271209 | Health Risk | Likely pathogenic | — |
| RS121434387 | Health Risk | Pathogenic | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS1264383808 | Health Risk | Pathogenic | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS2143335414 | Health Risk | Pathogenic | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS2143345233 | Health Risk | Pathogenic | — |
| RS1287837570 | Health Risk | Pathogenic/Likely pathogenic | COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation |
| RS780534334 | Health Risk | Pathogenic/Likely pathogenic | COG8-congenital disorder of glycosylation, COG8-related disorder, COG8-congenital disorder of glycosylation |