COG6 Chromosome 13
Component of oligomeric golgi complex 6
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What This Gene Does
This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Components of oligomeric golgi complex
Locus Type
gene with protein product
Location
13q14.11
Ensembl
ENSG00000133103
Associated Conditions (14)
COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-related disorder
Inborn genetic diseases
Familial cancer of breast
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Lung cancer
Clear cell carcinoma of kidney
Acute myeloid leukemia
Colon adenocarcinoma
See cases
Hypohidrosis
Intellectual disability
Key Variants
RS117688574
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation
Health Risk
RS139313781
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-related disorder
Health Risk
RS141114931
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation
Health Risk
RS141356976
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation
Health Risk
RS144843064
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Inborn genetic diseases
Health Risk
RS146229425
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-related disorder
Health Risk
RS147295042
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation
Health Risk
RS147311831
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation
Health Risk
RS185838939
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
Health Risk
RS34566895
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Familial cancer of breast
Health Risk
RS370228676
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-related disorder
Health Risk
RS375878630
Conflicting classifications of pathogenicity
COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Colon adenocarcinoma
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117688574 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS139313781 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-related disorder |
| RS141114931 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS141356976 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS144843064 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Inborn genetic diseases |
| RS146229425 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-related disorder |
| RS147295042 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS147311831 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS185838939 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS34566895 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Familial cancer of breast |
| RS370228676 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-related disorder |
| RS375878630 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Colon adenocarcinoma |
| RS561776134 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS752232501 | Health Risk | Conflicting classifications of pathogenicity | COG6-congenital disorder of glycosylation, COG6-related disorder, COG6-congenital disorder of glycosylation |
| RS1357662240 | Health Risk | Likely pathogenic | COG6-related disorder, COG6-related disorder |
| RS1453865021 | Health Risk | Likely pathogenic | Inborn genetic diseases, COG6-related disorder, Inborn genetic diseases |
| RS1593402927 | Health Risk | Likely pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS1593418044 | Health Risk | Likely pathogenic | — |
| RS1593418085 | Health Risk | Likely pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS1879202581 | Health Risk | Likely pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS200812708 | Health Risk | Likely pathogenic | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
| RS2137941877 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2138012131 | Health Risk | Likely pathogenic | — |
| RS2500598731 | Health Risk | Likely pathogenic | — |
| RS756826030 | Health Risk | Likely pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS75701196 | Health Risk | Likely pathogenic | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS1190636194 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS1259563970 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS1345713239 | Health Risk | Pathogenic | Inborn genetic diseases, COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
| RS1555277827 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS1593421620 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS200177031 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS2137942150 | Health Risk | Pathogenic | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
| RS2500684110 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS2500752563 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS387906959 | Health Risk | Pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS781641023 | Health Risk | Pathogenic | — |
| RS794726950 | Health Risk | Pathogenic | — |
| RS1292534396 | Health Risk | Pathogenic/Likely pathogenic | COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation |
| RS730882236 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Hypohidrosis, Intellectual disability |
| RS781236436 | Health Risk | Pathogenic/Likely pathogenic | COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |