SCN4B sodium voltage-gated channel beta subunit 4
Information
- Symbol
- SCN4B
- Type
- protein-coding
- Description
- sodium voltage-gated channel beta subunit 4
- Entrez Gene ID
- 6330
- Genome
- hg19
- Position
- chr11:118,004,092-118,023,538
- Genome
- hg38
- Position
- chr11:118,133,377-118,152,823
- MIM
- 608256 OMIM
- HGNC
- HGNC:10592 HGNC
- Ensembl
- ENSG00000177098 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Benign | 2 | 76 |
Likely benign | 0 | 202 |
Conflicting classifications of pathogenicity | 0 | 38 |
Uncertain significance | 0 | 300 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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122 |
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438 |
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8 |
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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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 |
Search Word
Target data | : |
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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Search word | : | |
Filtering | : |
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 | ATFB17 |
SYNONYM | LQT10 |
SYNONYM | Navbeta4 |
MIM | 608256 OMIM |
HGNC | HGNC:10592 HGNC |
Ensembl | ENSG00000177098 Ensembl |
AllianceGenome | HGNC:10592 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000529878.1 | hg38 | chr11 | 118,136,961 | 118,152,888 | 15,928 |
ENST00000324727.9 | hg38 | chr11 | 118,133,377 | 118,152,823 | 19,447 |
ENST00000324727.9 | hg19 | chr11 | 118,004,092 | 118,023,538 | 19,447 |
ENST00000529878.1 | hg19 | chr11 | 118,007,676 | 118,023,603 | 15,928 |
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