SCN8A sodium voltage-gated channel alpha subunit 8
Information
- Symbol
- SCN8A
- Type
- protein-coding
- Description
- sodium voltage-gated channel alpha subunit 8
- Entrez Gene ID
- 6334
- Genome
- hg19
- Position
- chr12:51,985,020-52,206,648
- Genome
- hg38
- Position
- chr12:51,591,233-51,812,864
- MIM
- 600702 OMIM
- HGNC
- HGNC:10596 HGNC
- Ensembl
- ENSG00000196876 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 17 | 234 |
| Likely pathogenic | 7 | 342 |
| Benign | 28 | 234 |
| Likely benign | 0 | 1,374 |
| Conflicting classifications of pathogenicity | 0 | 250 |
| not provided | 1 | 34 |
| Uncertain significance | 0 | 1,700 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
696 |
 |
3,024 |
 |
36 |
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 | BFIS5 |
| SYNONYM | CERIII |
| SYNONYM | CIAT |
| SYNONYM | DEE13 |
| SYNONYM | EIEE13 |
| SYNONYM | MED |
| SYNONYM | MYOCL2 |
| SYNONYM | NaCh6 |
| SYNONYM | Nav1.6 |
| SYNONYM | PN4 |
| MIM | 600702 OMIM |
| HGNC | HGNC:10596 HGNC |
| Ensembl | ENSG00000196876 Ensembl |
| AllianceGenome | HGNC:10596 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000599343.5 | hg38 | chr12 | 51,662,818 | 51,807,429 | 144,612 |
| ENST00000662684.1 | hg38 | chr12 | 51,590,906 | 51,808,268 | 217,363 |
| ENST00000638820.1 | hg38 | chr12 | 51,590,925 | 51,723,140 | 132,216 |
| ENST00000355133.7 | hg38 | chr12 | 51,662,818 | 51,807,429 | 144,612 |
| ENST00000545061.5 | hg38 | chr12 | 51,591,236 | 51,812,864 | 221,629 |
| ENST00000668547.1 | hg38 | chr12 | 51,591,233 | 51,808,304 | 217,072 |
| ENST00000354534.11 | hg38 | chr12 | 51,591,233 | 51,812,864 | 221,632 |
| ENST00000627620.5 | hg38 | chr12 | 51,591,233 | 51,812,864 | 221,632 |
| ENST00000667214.1 | hg38 | chr12 | 51,590,879 | 51,724,303 | 133,425 |
| ENST00000546961.1 | hg19 | chr12 | 51,984,050 | 52,056,604 | 72,555 |
| ENST00000550891.1 | hg19 | chr12 | 51,984,710 | 52,160,035 | 175,326 |
| ENST00000354534.6 | hg19 | chr12 | 51,985,020 | 52,206,648 | 221,629 |
| ENST00000545061.1 | hg19 | chr12 | 52,056,548 | 52,202,297 | 145,750 |
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