BCR BCR activator of RhoGEF and GTPase
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 48 |
| Likely benign | 0 | 70 |
| not provided | 5 | 6 |
| Uncertain significance | 0 | 142 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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10 |
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244 |
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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
| Target data | : |
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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 | ALL |
| SYNONYM | BCR1 |
| SYNONYM | CML |
| SYNONYM | D22S11 |
| SYNONYM | D22S662 |
| SYNONYM | PHL |
| MIM | 151410 OMIM |
| HGNC | HGNC:1014 HGNC |
| Ensembl | ENSG00000186716 Ensembl |
| AllianceGenome | HGNC:1014 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000305877.13 | hg38 | chr22 | 23,180,509 | 23,318,037 | 137,529 |
| ENST00000359540.7 | hg38 | chr22 | 23,180,365 | 23,315,950 | 135,586 |
| ENST00000359540.7 | hg19 | chr22 | 23,522,552 | 23,658,137 | 135,586 |
| ENST00000305877.13 | hg19 | chr22 | 23,522,696 | 23,660,224 | 137,529 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 23,522,551 |
| Gene Symbol | BCR |
| Entrez GeneId | 613 |
| Chr Band | 22q11.21 |
| end | 23,660,223 |
| chr | chr22 |
| Name | breakpoint cluster region |
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