KCNB1 potassium voltage-gated channel subfamily B member 1

Information
Symbol
KCNB1
Type
protein-coding
Description
potassium voltage-gated channel subfamily B member 1
Entrez Gene ID
3745
Genome
hg19
Position
chr20:47,980,414-48,099,205
Genome
hg38
Position
chr20:49,363,877-49,482,668
MIM
600397 OMIM
HGNC
HGNC:6231 HGNC
Ensembl
ENSG00000158445 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 104
Likely pathogenic 2 120
Benign 0 158
Likely benign 0 554
Conflicting classifications of pathogenicity 0 92
not provided 1 6
Uncertain significance 0 442
Ranking
ClinVar
0
0
260
1,032
14
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 DEE26
SYNONYM DRK1
SYNONYM Kv2.1
MIM 600397 OMIM
HGNC HGNC:6231 HGNC
Ensembl ENSG00000158445 Ensembl
AllianceGenome HGNC:6231
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000371741.6 hg38 chr20 49,363,877 49,482,668 118,792
ENST00000635465.1 hg38 chr20 49,371,968 49,484,297 112,330
ENST00000371741.6 hg19 chr20 47,980,414 48,099,205 118,792
ENST00000635465.1 hg19 chr20 47,988,505 48,100,834 112,330
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