CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4
Information
- Symbol
- CACNA2D4
- Type
- protein-coding
- Description
- calcium voltage-gated channel auxiliary subunit alpha2delta 4
- Entrez Gene ID
- 93589
- Genome
- hg19
- Position
- chr12:1,901,129-2,027,818
- Genome
- hg38
- Position
- chr12:1,791,963-1,918,652
- MIM
- 608171 OMIM
- HGNC
- HGNC:20202 HGNC
- Ensembl
- ENSG00000151062 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 152 |
| Likely benign | 0 | 764 |
| Conflicting classifications of pathogenicity | 0 | 96 |
| Uncertain significance | 0 | 1,334 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
244 |
 |
1,988 |
 |
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
| 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
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| Category | : |
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| 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 | RCD4 |
| MIM | 608171 OMIM |
| HGNC | HGNC:20202 HGNC |
| Ensembl | ENSG00000151062 Ensembl |
| AllianceGenome | HGNC:20202 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000538027.6 | hg38 | chr12 | 1,793,603 | 1,811,760 | 18,158 |
| ENST00000587995.5 | hg38 | chr12 | 1,793,169 | 1,918,531 | 125,363 |
| ENST00000585732.1 | hg38 | chr12 | 1,809,379 | 1,918,546 | 109,168 |
| ENST00000382722.10 | hg38 | chr12 | 1,791,963 | 1,918,652 | 126,690 |
| ENST00000586184.5 | hg38 | chr12 | 1,795,109 | 1,918,473 | 123,365 |
| ENST00000585708.5 | hg38 | chr12 | 1,795,143 | 1,915,227 | 120,085 |
| ENST00000588077.5 | hg38 | chr12 | 1,793,566 | 1,915,227 | 121,662 |
| ENST00000538450.5 | hg38 | chr12 | 1,793,043 | 1,811,791 | 18,749 |
| ENST00000382722.10 | hg19 | chr12 | 1,901,129 | 2,027,818 | 126,690 |
| ENST00000538450.5 | hg19 | chr12 | 1,902,209 | 1,920,957 | 18,749 |
| ENST00000586184.5 | hg19 | chr12 | 1,904,275 | 2,027,639 | 123,365 |
| ENST00000538027.6 | hg19 | chr12 | 1,902,769 | 1,920,926 | 18,158 |
| ENST00000585732.1 | hg19 | chr12 | 1,918,545 | 2,027,712 | 109,168 |
| ENST00000585708.5 | hg19 | chr12 | 1,904,309 | 2,024,393 | 120,085 |
| ENST00000587995.5 | hg19 | chr12 | 1,902,335 | 2,027,697 | 125,363 |
| ENST00000588077.5 | hg19 | chr12 | 1,902,732 | 2,024,393 | 121,662 |
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