COG7 Chromosome 16
Component of oligomeric golgi complex 7
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What This Gene Does
The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Components of oligomeric golgi complex
Locus Type
gene with protein product
Location
16p12.2
Ensembl
ENSG00000168434
Associated Conditions (5)
COG7 congenital disorder of glycosylation
COG7-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Key Variants
RS1019861391
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
RS112611398
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
RS114458562
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
RS114661874
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
RS115073082
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7-related disorder, COG7 congenital disorder of glycosylation
Health Risk
RS115605801
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7-related disorder, COG7 congenital disorder of glycosylation
Health Risk
RS116061107
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, Inborn genetic diseases, COG7 congenital disorder of glycosylation
Health Risk
RS116153163
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
RS116314856
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
RS116331296
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7-related disorder, COG7 congenital disorder of glycosylation
Health Risk
RS1351862780
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
RS139853094
Conflicting classifications of pathogenicity
COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2506567482 | Health Risk | Pathogenic | COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation |
| RS2506592783 | Health Risk | Pathogenic | COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation |
| RS2506639430 | Health Risk | Pathogenic | COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation |
| RS769603091 | Health Risk | Pathogenic | — |
| RS797044712 | Health Risk | Pathogenic | COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation |
| RS768615420 | Health Risk | Pathogenic/Likely pathogenic | COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation |
| RS780863769 | Health Risk | Pathogenic/Likely pathogenic | COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation |