KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3
Information
- Symbol
- KCNMB3
- Type
- protein-coding
- Description
- potassium calcium-activated channel subfamily M regulatory beta subunit 3
- Entrez Gene ID
- 27094
- Genome
- hg19
- Position
- chr3:178,960,559-178,969,403
- Genome
- hg38
- Position
- chr3:179,242,771-179,251,615
- MIM
- 605222 OMIM
- HGNC
- HGNC:6287 HGNC
- Ensembl
- ENSG00000171121 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 1 | 0 |
| Benign | 0 | 8 |
| Likely benign | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
22 |
 |
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 | : |
MGeND data only
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| Category | : |
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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
|
| Category | : |
|
| Search word | : | |
| 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 | BKBETA3 |
| SYNONYM | HBETA3 |
| SYNONYM | K(VCA)BETA-3 |
| SYNONYM | KCNMB2 |
| SYNONYM | KCNMBL |
| SYNONYM | SLO-BETA-3 |
| SYNONYM | SLOBETA3 |
| MIM | 605222 OMIM |
| HGNC | HGNC:6287 HGNC |
| Ensembl | ENSG00000171121 Ensembl |
| AllianceGenome | HGNC:6287 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392685.7 | hg38 | chr3 | 179,242,771 | 179,251,114 | 8,344 |
| ENST00000349697.2 | hg38 | chr3 | 179,242,771 | 179,266,971 | 24,201 |
| ENST00000497599.5 | hg38 | chr3 | 179,239,806 | 179,267,002 | 27,197 |
| ENST00000485523.5 | hg38 | chr3 | 179,236,691 | 179,259,208 | 22,518 |
| ENST00000314235.9 | hg38 | chr3 | 179,242,771 | 179,251,615 | 8,845 |
| ENST00000485523.5 | hg19 | chr3 | 178,954,479 | 178,976,996 | 22,518 |
| ENST00000497599.5 | hg19 | chr3 | 178,957,594 | 178,984,790 | 27,197 |
| ENST00000392685.7 | hg19 | chr3 | 178,960,559 | 178,968,902 | 8,344 |
| ENST00000314235.9 | hg19 | chr3 | 178,960,559 | 178,969,403 | 8,845 |
| ENST00000349697.2 | hg19 | chr3 | 178,960,559 | 178,984,759 | 24,201 |
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