PET117 PET117 cytochrome c oxidase chaperone
Information
- Symbol
- PET117
- Type
- protein-coding
- Description
- PET117 cytochrome c oxidase chaperone
- Entrez Gene ID
- 100303755
- Genome
- hg19
- Position
- chr20:18,118,507-18,123,813
- Genome
- hg38
- Position
- chr20:18,137,863-18,143,169
- MIM
- 614771 OMIM
- HGNC
- HGNC:40045 HGNC
- Ensembl
- ENSG00000232838 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
20 |
 |
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
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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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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CSRP2BP |
| SYNONYM | MC4DN19 |
| MIM | 614771 OMIM |
| HGNC | HGNC:40045 HGNC |
| Ensembl | ENSG00000232838 Ensembl |
| AllianceGenome | HGNC:40045 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000432901.4 | hg38 | chr20 | 18,137,863 | 18,143,169 | 5,307 |
| ENST00000432901.4 | hg19 | chr20 | 18,118,507 | 18,123,813 | 5,307 |
| Key | Value |
|---|---|
| strand | + |
| start | 18,118,498 |
| Gene Symbol | PET117 |
| Entrez GeneId | 100,303,755 |
| Chr Band | 20p11.23 |
| end | 18,123,811 |
| chr | chr20 |
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