COX17 cytochrome c oxidase copper chaperone COX17
Information
- Symbol
- COX17
- Type
- protein-coding
- Description
- cytochrome c oxidase copper chaperone COX17
- Entrez Gene ID
- 10063
- Genome
- hg19
- Position
- chr3:119,388,379-119,396,193
- Genome
- hg38
- Position
- chr3:119,669,532-119,677,346
- MIM
- 604813 OMIM
- HGNC
- HGNC:2264 HGNC
- Ensembl
- ENSG00000138495 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
2 |
 |
0 |
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 | |||||
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| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
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MGeND data only
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| 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
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| 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 | |||||||||||||||
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000261070.7 | hg38 | chr3 | 119,669,532 | 119,677,406 | 7,875 |
| ENST00000497116.1 | hg38 | chr3 | 119,674,379 | 119,677,364 | 2,986 |
| ENST00000484810.5 | hg38 | chr3 | 119,669,532 | 119,677,346 | 7,815 |
| ENST00000484810.5 | hg19 | chr3 | 119,388,379 | 119,396,193 | 7,815 |
| ENST00000261070.7 | hg19 | chr3 | 119,388,379 | 119,396,253 | 7,875 |
| ENST00000497116.1 | hg19 | chr3 | 119,393,226 | 119,396,211 | 2,986 |
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