CACNA1S calcium voltage-gated channel subunit alpha1 S
Information
- Symbol
- CACNA1S
- Type
- protein-coding
- Description
- calcium voltage-gated channel subunit alpha1 S
- Entrez Gene ID
- 779
- Genome
- hg19
- Position
- chr1:201,008,640-201,081,554
- Genome
- hg38
- Position
- chr1:201,039,512-201,112,426
- MIM
- 114208 OMIM
- HGNC
- HGNC:1397 HGNC
- Ensembl
- ENSG00000081248 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 3 | 132 |
| Likely pathogenic | 1 | 90 |
| Benign | 24 | 426 |
| Likely benign | 0 | 2,104 |
| Conflicting classifications of pathogenicity | 0 | 564 |
| drug response | 0 | 4 |
| not provided | 1 | 0 |
| risk factor | 0 | 2 |
| Uncertain significance | 0 | 2,142 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
4 |
 |
1,214 |
 |
3,464 |
 |
40 |
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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| Category | : |
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| Search word | : | |
| 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 | CACNL1A3 |
| SYNONYM | CCHL1A3 |
| SYNONYM | CMYP18 |
| SYNONYM | Cav1.1 |
| SYNONYM | DHPRM |
| SYNONYM | HOKPP |
| SYNONYM | HOKPP1 |
| SYNONYM | MHS5 |
| SYNONYM | TTPP1 |
| SYNONYM | hypoPP |
| MIM | 114208 OMIM |
| HGNC | HGNC:1397 HGNC |
| Ensembl | ENSG00000081248 Ensembl |
| AllianceGenome | HGNC:1397 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000681874.1 | hg38 | chr1 | 201,039,512 | 201,112,426 | 72,915 |
| ENST00000362061.4 | hg38 | chr1 | 201,039,512 | 201,112,426 | 72,915 |
| ENST00000367338.7 | hg38 | chr1 | 201,039,512 | 201,112,451 | 72,940 |
| ENST00000362061.4 | hg19 | chr1 | 201,008,640 | 201,081,554 | 72,915 |
| ENST00000681874.1 | hg19 | chr1 | 201,008,640 | 201,081,554 | 72,915 |
| ENST00000367338.7 | hg19 | chr1 | 201,008,640 | 201,081,579 | 72,940 |
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