KCNA1 potassium voltage-gated channel subfamily A member 1

Information
Symbol
KCNA1
Type
protein-coding
Description
potassium voltage-gated channel subfamily A member 1
Entrez Gene ID
3736
Genome
hg19
Position
chr12:5,019,071-5,027,422
Genome
hg38
Position
chr12:4,909,905-4,918,256
MIM
176260 OMIM
HGNC
HGNC:6218 HGNC
Ensembl
ENSG00000111262 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 48
Likely pathogenic 0 30
Benign 10 120
Likely benign 0 362
Conflicting classifications of pathogenicity 0 34
not provided 0 2
Uncertain significance 0 664
Ranking
ClinVar
0
0
162
966
20
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 :
Filtering :
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 AEMK
SYNONYM EA1
SYNONYM HBK1
SYNONYM HUK1
SYNONYM KV1.1
SYNONYM MBK1
SYNONYM MK1
SYNONYM RBK1
MIM 176260 OMIM
HGNC HGNC:6218 HGNC
Ensembl ENSG00000111262 Ensembl
AllianceGenome HGNC:6218
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000382545.5 hg38 chr12 4,909,905 4,918,256 8,352
ENST00000382545.5 hg19 chr12 5,019,071 5,027,422 8,352
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