CHMP4A charged multivesicular body protein 4A
Information
- Symbol
- CHMP4A
- Type
- protein-coding
- Description
- charged multivesicular body protein 4A
- Entrez Gene ID
- 29082
- Genome
- hg19
- Position
- chr14:24,678,821-24,682,694
- Genome
- hg38
- Position
- chr14:24,209,615-24,213,488
- MIM
- 610051 OMIM
- HGNC
- HGNC:20274 HGNC
- Ensembl
- ENSG00000254505 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
28 |
 |
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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| 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 | C14orf123 |
| SYNONYM | CHMP4 |
| SYNONYM | CHMP4B |
| SYNONYM | HSPC134 |
| SYNONYM | SHAX2 |
| SYNONYM | SNF7 |
| SYNONYM | SNF7-1 |
| SYNONYM | VPS32-1 |
| SYNONYM | VPS32A |
| SYNONYM | hSnf7-1 |
| MIM | 610051 OMIM |
| HGNC | HGNC:20274 HGNC |
| Ensembl | ENSG00000254505 Ensembl |
| AllianceGenome | HGNC:20274 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000530996.5 | hg38 | chr14 | 24,209,624 | 24,213,489 | 3,866 |
| ENST00000347519.12 | hg38 | chr14 | 24,209,615 | 24,213,488 | 3,874 |
| ENST00000347519.12 | hg19 | chr14 | 24,678,821 | 24,682,694 | 3,874 |
| ENST00000530996.5 | hg19 | chr14 | 24,678,830 | 24,682,695 | 3,866 |
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