KCNA5 potassium voltage-gated channel subfamily A member 5

Information
Symbol
KCNA5
Type
protein-coding
Description
potassium voltage-gated channel subfamily A member 5
Entrez Gene ID
3741
Genome
hg19
Position
chr12:5,153,045-5,155,954
Genome
hg38
Position
chr12:5,043,879-5,046,788
MIM
176267 OMIM
HGNC
HGNC:6224 HGNC
Ensembl
ENSG00000130037 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 4 38
Likely benign 0 236
Conflicting classifications of pathogenicity 0 56
Uncertain significance 0 614
Ranking
ClinVar
0
0
156
716
6
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 ATFB7
SYNONYM HCK1
SYNONYM HK2
SYNONYM HPCN1
SYNONYM KV1.5
SYNONYM PCN1
MIM 176267 OMIM
HGNC HGNC:6224 HGNC
Ensembl ENSG00000130037 Ensembl
AllianceGenome HGNC:6224
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252321.5 hg38 chr12 5,043,879 5,046,788 2,910
ENST00000252321.5 hg19 chr12 5,153,045 5,155,954 2,910
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