COG5 Chromosome 7
Component of oligomeric golgi complex 5
Upload your DNA to see your personal genotypes for variants in COG5.
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. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
Gene Info
Gene Group
Components of oligomeric golgi complex
Locus Type
gene with protein product
Location
7q22.3
Ensembl
ENSG00000164597
Associated Conditions (5)
COG5-congenital disorder of glycosylation
Inborn genetic diseases
COG5-related disorder
Uterine corpus endometrial carcinoma
Sarcoma
Key Variants
RS1033213070
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, Inborn genetic diseases, COG5-congenital disorder of glycosylation
Health Risk
RS1049832940
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
Health Risk
RS113660545
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
Health Risk
RS138518242
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
Health Risk
RS139763861
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, Inborn genetic diseases, COG5-related disorder
Health Risk
RS141942249
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, Inborn genetic diseases, COG5-congenital disorder of glycosylation
Health Risk
RS142276972
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, Inborn genetic diseases, COG5-related disorder
Health Risk
RS142433421
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, COG5-related disorder, COG5-congenital disorder of glycosylation
Health Risk
RS142970891
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, COG5-related disorder, COG5-congenital disorder of glycosylation
Health Risk
RS143773937
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, Inborn genetic diseases, COG5-related disorder
Health Risk
RS145128460
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, COG5-related disorder, COG5-congenital disorder of glycosylation
Health Risk
RS145648013
Conflicting classifications of pathogenicity
COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751641438 | Health Risk | Likely pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS752611073 | Health Risk | Likely pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS760015202 | Health Risk | Likely pathogenic | — |
| RS1186766555 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1214642702 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1231928102 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1288339759 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1289836014 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1330009938 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1357823045 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1416296037 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1422285851 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1449966934 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1554464495 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-related disorder, COG5-congenital disorder of glycosylation |
| RS1562937199 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1563018529 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, Inborn genetic diseases, COG5-congenital disorder of glycosylation |
| RS1798520770 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1800843840 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1803451815 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS1814292465 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS186512876 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2116201860 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2116202376 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2116402799 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2116916717 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2536102929 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2536186153 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2536186819 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2536503473 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS2536552892 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS370028534 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS370851836 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS548774836 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS746960200 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS749787793 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS751860643 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS771651520 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS773281248 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS773453129 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS777937112 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS778187974 | Health Risk | Pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS148069173 | Health Risk | Pathogenic/Likely pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS375702393 | Health Risk | Pathogenic/Likely pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS762675426 | Health Risk | Pathogenic/Likely pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |
| RS781258339 | Health Risk | Pathogenic/Likely pathogenic | COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation |