UCP2 uncoupling protein 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 14 |
| Likely benign | 0 | 28 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 98 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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38 |
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92 |
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4 |
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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| 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 | BMIQ4 |
| SYNONYM | SLC25A8 |
| SYNONYM | UCPH |
| MIM | 601693 OMIM |
| HGNC | HGNC:12518 HGNC |
| Ensembl | ENSG00000175567 Ensembl |
| AllianceGenome | HGNC:12518 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000536983.5 | hg38 | chr11 | 73,974,709 | 73,982,830 | 8,122 |
| ENST00000663595.2 | hg38 | chr11 | 73,974,672 | 73,982,843 | 8,172 |
| ENST00000310473.9 | hg38 | chr11 | 73,974,679 | 73,982,843 | 8,165 |
| ENST00000663595.2 | hg19 | chr11 | 73,685,717 | 73,693,888 | 8,172 |
| ENST00000310473.9 | hg19 | chr11 | 73,685,724 | 73,693,888 | 8,165 |
| ENST00000536983.5 | hg19 | chr11 | 73,685,754 | 73,693,875 | 8,122 |
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