CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5
Information
- Symbol
- CHCHD5
- Type
- protein-coding
- Description
- coiled-coil-helix-coiled-coil-helix domain containing 5
- Entrez Gene ID
- 84269
- Genome
- hg19
- Position
- chr2:113,342,186-113,346,617
- Genome
- hg38
- Position
- chr2:112,584,609-112,589,040
- MIM
- 616978 OMIM
- HGNC
- HGNC:17840 HGNC
- Ensembl
- ENSG00000125611 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar |
|---|
Ranking
| ClinVar | |
|---|---|
 |
0 |
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0 |
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0 |
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0 |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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
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| 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 | C2orf9 |
| SYNONYM | CHTM1 |
| SYNONYM | MIC14 |
| SYNONYM | MIX14 |
| MIM | 616978 OMIM |
| HGNC | HGNC:17840 HGNC |
| Ensembl | ENSG00000125611 Ensembl |
| AllianceGenome | HGNC:17840 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409719.1 | hg38 | chr2 | 112,584,595 | 112,589,275 | 4,681 |
| ENST00000324913.10 | hg38 | chr2 | 112,584,609 | 112,589,040 | 4,432 |
| ENST00000409719.1 | hg19 | chr2 | 113,342,172 | 113,346,852 | 4,681 |
| ENST00000324913.10 | hg19 | chr2 | 113,342,186 | 113,346,617 | 4,432 |
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