SCN2B sodium voltage-gated channel beta subunit 2
Information
- Symbol
- SCN2B
- Type
- protein-coding
- Description
- sodium voltage-gated channel beta subunit 2
- Entrez Gene ID
- 6327
- Genome
- hg19
- Position
- chr11:118,033,521-118,047,354
- Genome
- hg38
- Position
- chr11:118,162,806-118,176,639
- MIM
- 601327 OMIM
- HGNC
- HGNC:10589 HGNC
- Ensembl
- ENSG00000149575 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 26 |
Likely benign | 0 | 154 |
Conflicting classifications of pathogenicity | 0 | 18 |
not provided | 0 | 2 |
Uncertain significance | 0 | 190 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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104 |
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262 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | ATFB14 |
MIM | 601327 OMIM |
HGNC | HGNC:10589 HGNC |
Ensembl | ENSG00000149575 Ensembl |
AllianceGenome | HGNC:10589 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000278947.6 | hg38 | chr11 | 118,162,806 | 118,176,639 | 13,834 |
ENST00000278947.6 | hg19 | chr11 | 118,033,521 | 118,047,354 | 13,834 |
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