SCN3B sodium voltage-gated channel beta subunit 3

Information
Symbol
SCN3B
Type
protein-coding
Description
sodium voltage-gated channel beta subunit 3
Entrez Gene ID
55800
Genome
hg19
Position
chr11:123,499,897-123,525,312
Genome
hg38
Position
chr11:123,629,189-123,654,604
MIM
608214 OMIM
HGNC
HGNC:20665 HGNC
Ensembl
ENSG00000166257 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 4 72
Likely benign 0 156
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 208
Ranking
ClinVar
0
0
112
308
4
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
Category :
Search word :
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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
Category :
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
TypeID
SYNONYM ATFB16
SYNONYM BRGDA7
SYNONYM HSA243396
SYNONYM SCNB3
MIM 608214 OMIM
HGNC HGNC:20665 HGNC
Ensembl ENSG00000166257 Ensembl
AllianceGenome HGNC:20665
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000530277.5 hg38 chr11 123,631,214 123,654,607 23,394
ENST00000299333.8 hg38 chr11 123,629,188 123,654,624 25,437
ENST00000657123.1 hg38 chr11 123,629,201 123,655,244 26,044
ENST00000392770.6 hg38 chr11 123,629,189 123,654,604 25,416
ENST00000299333.8 hg19 chr11 123,499,896 123,525,332 25,437
ENST00000392770.6 hg19 chr11 123,499,897 123,525,312 25,416
ENST00000657123.1 hg19 chr11 123,499,909 123,525,952 26,044
ENST00000530277.5 hg19 chr11 123,501,922 123,525,315 23,394
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