COG1 Chromosome 17
Component of oligomeric golgi complex 1
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What This Gene Does
The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Components of oligomeric golgi complex
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000166685
Associated Conditions (4)
COG1 congenital disorder of glycosylation
COG1-related disorder
Inborn genetic diseases
Nephrotic syndrome
Key Variants
RS117208167
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1-related disorder, COG1 congenital disorder of glycosylation
Health Risk
RS1197833925
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation
Health Risk
RS1229193421
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation
Health Risk
RS141750466
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1-related disorder, COG1 congenital disorder of glycosylation
Health Risk
RS142827255
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
Health Risk
RS144115463
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
Health Risk
RS146046236
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
Health Risk
RS146066919
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1-related disorder, Inborn genetic diseases
Health Risk
RS147598221
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
Health Risk
RS148502827
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
Health Risk
RS149888309
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
Health Risk
RS185592690
Conflicting classifications of pathogenicity
COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117208167 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1-related disorder, COG1 congenital disorder of glycosylation |
| RS1197833925 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS1229193421 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS141750466 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1-related disorder, COG1 congenital disorder of glycosylation |
| RS142827255 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS144115463 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS146046236 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS146066919 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1-related disorder, Inborn genetic diseases |
| RS147598221 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS148502827 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS149888309 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS185592690 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS188853520 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS200144944 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS201123101 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS201263432 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS201364732 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS201867802 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS534708439 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS748732950 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1-related disorder, COG1 congenital disorder of glycosylation |
| RS759050295 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS766457949 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS769310036 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS772385793 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS774356907 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, Inborn genetic diseases, COG1 congenital disorder of glycosylation |
| RS781686684 | Health Risk | Conflicting classifications of pathogenicity | COG1 congenital disorder of glycosylation, COG1-related disorder, COG1 congenital disorder of glycosylation |
| RS1555725221 | Health Risk | Likely pathogenic | — |
| RS1555725363 | Health Risk | Likely pathogenic | — |
| RS771513054 | Health Risk | Likely pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS1568296260 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, Nephrotic syndrome, COG1 congenital disorder of glycosylation |
| RS1568298983 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS2061310130 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS2061375797 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS2145097019 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS2511081455 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS758521897 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS773341615 | Health Risk | Pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS1227032564 | Health Risk | Pathogenic/Likely pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |
| RS747606976 | Health Risk | Pathogenic/Likely pathogenic | COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation |