CPB2 carboxypeptidase B2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 14 |
| Likely benign | 0 | 10 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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44 |
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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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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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 | CPU |
| SYNONYM | PCPB |
| SYNONYM | TAFI |
| MIM | 603101 OMIM |
| HGNC | HGNC:2300 HGNC |
| Ensembl | ENSG00000080618 Ensembl |
| AllianceGenome | HGNC:2300 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000181383.10 | hg38 | chr13 | 46,053,186 | 46,105,033 | 51,848 |
| ENST00000439329.5 | hg38 | chr13 | 46,053,217 | 46,105,028 | 51,812 |
| ENST00000674625.1 | hg38 | chr13 | 46,068,528 | 46,105,028 | 36,501 |
| ENST00000181383.10 | hg19 | chr13 | 46,627,321 | 46,679,168 | 51,848 |
| ENST00000439329.5 | hg19 | chr13 | 46,627,352 | 46,679,163 | 51,812 |
| ENST00000674625.1 | hg19 | chr13 | 46,642,663 | 46,679,163 | 36,501 |
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