CACNB3 calcium voltage-gated channel auxiliary subunit beta 3
Information
- Symbol
- CACNB3
- Type
- protein-coding
- Description
- calcium voltage-gated channel auxiliary subunit beta 3
- Entrez Gene ID
- 784
- Genome
- hg19
- Position
- chr12:49,212,279-49,222,724
- Genome
- hg38
- Position
- chr12:48,818,496-48,828,941
- MIM
- 601958 OMIM
- HGNC
- HGNC:1403 HGNC
- Ensembl
- ENSG00000167535 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
62 |
 |
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
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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 | CAB3 |
| SYNONYM | CACNLB3 |
| MIM | 601958 OMIM |
| HGNC | HGNC:1403 HGNC |
| Ensembl | ENSG00000167535 Ensembl |
| AllianceGenome | HGNC:1403 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000540990.5 | hg38 | chr12 | 48,814,451 | 48,828,200 | 13,750 |
| ENST00000547230.5 | hg38 | chr12 | 48,818,909 | 48,828,941 | 10,033 |
| ENST00000301050.7 | hg38 | chr12 | 48,818,496 | 48,828,941 | 10,446 |
| ENST00000536187.6 | hg38 | chr12 | 48,815,587 | 48,828,219 | 12,633 |
| ENST00000547392.5 | hg38 | chr12 | 48,818,504 | 48,828,336 | 9,833 |
| ENST00000301050.7 | hg19 | chr12 | 49,212,279 | 49,222,724 | 10,446 |
| ENST00000536187.6 | hg19 | chr12 | 49,209,370 | 49,222,002 | 12,633 |
| ENST00000540990.5 | hg19 | chr12 | 49,208,234 | 49,221,983 | 13,750 |
| ENST00000547230.5 | hg19 | chr12 | 49,212,692 | 49,222,724 | 10,033 |
| ENST00000547392.5 | hg19 | chr12 | 49,212,287 | 49,222,119 | 9,833 |
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