COG4 Chromosome 16
Component of oligomeric golgi complex 4
Upload your DNA to see your personal genotypes for variants in COG4.
What This Gene Does
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]
Gene Info
Gene Group
Components of oligomeric golgi complex
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000103051
Associated Conditions (9)
COG4-congenital disorder of glycosylation
Inborn genetic diseases
Microcephalic osteodysplastic dysplasia
Saul-Wilson type
COG4-related disorder
Hepatocellular carcinoma
Delayed gross motor development
See cases
COG4-Related Disorders
Key Variants
RS138693104
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, Inborn genetic diseases, Microcephalic osteodysplastic dysplasia
Health Risk
RS138701123
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation
Health Risk
RS189821897
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
Health Risk
RS200083914
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
Health Risk
RS201323781
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, COG4-related disorder, COG4-congenital disorder of glycosylation
Health Risk
RS372362031
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
Health Risk
RS374732475
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation
Health Risk
RS533161794
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
Health Risk
RS547599836
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation
Health Risk
RS573621071
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation
Health Risk
RS752722792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS768897804
Conflicting classifications of pathogenicity
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138693104 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, Inborn genetic diseases, Microcephalic osteodysplastic dysplasia |
| RS138701123 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation |
| RS189821897 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS200083914 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS201323781 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, COG4-related disorder, COG4-congenital disorder of glycosylation |
| RS372362031 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS374732475 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation |
| RS533161794 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS547599836 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation |
| RS573621071 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, Inborn genetic diseases, COG4-congenital disorder of glycosylation |
| RS752722792 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768897804 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS773477666 | Health Risk | Conflicting classifications of pathogenicity | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS1064793795 | Health Risk | Likely pathogenic | — |
| RS1311924956 | Health Risk | Likely pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS1474477573 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic dysplasia, Saul-Wilson type, Microcephalic osteodysplastic dysplasia |
| RS1555573157 | Health Risk | Likely pathogenic | — |
| RS2049339111 | Health Risk | Likely pathogenic | — |
| RS2151758141 | Health Risk | Likely pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS539535604 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic dysplasia, Saul-Wilson type, Microcephalic osteodysplastic dysplasia |
| RS540632609 | Health Risk | Likely pathogenic | COG4-congenital disorder of glycosylation, Hepatocellular carcinoma, COG4-congenital disorder of glycosylation |
| RS1048764460 | Health Risk | Pathogenic | Delayed gross motor development, Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
| RS1555497029 | Health Risk | Pathogenic | — |
| RS1555575860 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
| RS2049726544 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS2151749755 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS2151758219 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS387907202 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS387907203 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS773457236 | Health Risk | Pathogenic | — |
| RS926950737 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS937887233 | Health Risk | Pathogenic | COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS1249789100 | Health Risk | Pathogenic/Likely pathogenic | COG4-congenital disorder of glycosylation, Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
| RS1333878137 | Health Risk | Pathogenic/Likely pathogenic | COG4-related disorder, COG4-related disorder |
| RS267606740 | Health Risk | Pathogenic/Likely pathogenic | COG4-congenital disorder of glycosylation, See cases, COG4-congenital disorder of glycosylation |
| RS376663459 | Health Risk | Pathogenic/Likely pathogenic | COG4-congenital disorder of glycosylation, COG4-Related Disorders, COG4-congenital disorder of glycosylation |