COG6 component of oligomeric golgi complex 6
Information
- Symbol
- COG6
- Type
- protein-coding
- Description
- component of oligomeric golgi complex 6
- Entrez Gene ID
- 57511
- Genome
- hg19
- Position
- chr13:40,229,799-40,326,765
- Genome
- hg38
- Position
- chr13:39,655,662-39,752,628
- MIM
- 606977 OMIM
- HGNC
- HGNC:18621 HGNC
- Ensembl
- ENSG00000133103 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 34 |
| Likely pathogenic | 0 | 26 |
| Benign | 0 | 150 |
| Likely benign | 0 | 174 |
| Conflicting classifications of pathogenicity | 0 | 28 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 288 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
120 |
 |
516 |
 |
10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CDG2L |
| SYNONYM | COD2 |
| SYNONYM | SHNS |
| MIM | 606977 OMIM |
| HGNC | HGNC:18621 HGNC |
| Ensembl | ENSG00000133103 Ensembl |
| AllianceGenome | HGNC:18621 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000416691.5 | hg38 | chr13 | 39,655,627 | 39,791,665 | 136,039 |
| ENST00000455146.8 | hg38 | chr13 | 39,655,662 | 39,752,628 | 96,967 |
| ENST00000630730.1 | hg38 | chr13 | 39,655,727 | 39,656,149 | 423 |
| ENST00000416691.5 | hg19 | chr13 | 40,229,764 | 40,365,802 | 136,039 |
| ENST00000455146.8 | hg19 | chr13 | 40,229,799 | 40,326,765 | 96,967 |
| ENST00000630730.1 | hg19 | chr13 | 40,229,864 | 40,230,286 | 423 |
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