KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3

Information
Symbol
KCNE3
Type
protein-coding
Description
potassium voltage-gated channel subfamily E regulatory subunit 3
Entrez Gene ID
10008
Genome
hg19
Position
chr11:74,165,886-74,178,594
Genome
hg38
Position
chr11:74,454,841-74,467,549
MIM
604433 OMIM
HGNC
HGNC:6243 HGNC
Ensembl
ENSG00000175538 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 2 0
Benign 6 26
Likely benign 0 44
Conflicting classifications of pathogenicity 0 20
Uncertain significance 2 118
Ranking
ClinVar
0
0
64
122
0
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 :
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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 BRGDA6
SYNONYM HOKPP
SYNONYM HYPP
SYNONYM MiRP2
MIM 604433 OMIM
HGNC HGNC:6243 HGNC
Ensembl ENSG00000175538 Ensembl
AllianceGenome HGNC:6243
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310128.9 hg38 chr11 74,454,841 74,467,549 12,709
ENST00000525550.1 hg38 chr11 74,457,082 74,462,367 5,286
ENST00000310128.9 hg19 chr11 74,165,886 74,178,594 12,709
ENST00000525550.1 hg19 chr11 74,168,127 74,173,412 5,286
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