MVB12A multivesicular body subunit 12A
Information
- Symbol
- MVB12A
- Type
- protein-coding
- Description
- multivesicular body subunit 12A
- Entrez Gene ID
- 93343
- Genome
- hg19
- Position
- chr19:17,530,856-17,536,141
- Genome
- hg38
- Position
- chr19:17,420,047-17,425,332
- HGNC
- HGNC:25153 HGNC
- Ensembl
- ENSG00000141971 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
48 |
 |
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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| 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 | CFBP |
| SYNONYM | FAM125A |
| HGNC | HGNC:25153 HGNC |
| Ensembl | ENSG00000141971 Ensembl |
| AllianceGenome | HGNC:25153 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000528515.5 | hg38 | chr19 | 17,420,082 | 17,424,677 | 4,596 |
| ENST00000317040.12 | hg38 | chr19 | 17,420,047 | 17,425,332 | 5,286 |
| ENST00000529939.5 | hg38 | chr19 | 17,420,072 | 17,433,724 | 13,653 |
| ENST00000317040.12 | hg19 | chr19 | 17,530,856 | 17,536,141 | 5,286 |
| ENST00000529939.5 | hg19 | chr19 | 17,530,881 | 17,544,533 | 13,653 |
| ENST00000528515.5 | hg19 | chr19 | 17,530,891 | 17,535,486 | 4,596 |
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