KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1

Information
Symbol
KCNE1
Type
protein-coding
Description
potassium voltage-gated channel subfamily E regulatory subunit 1
Entrez Gene ID
3753
Genome
hg19
Position
chr21:35,818,988-35,884,508
Genome
hg38
Position
chr21:34,446,690-34,512,210
MIM
176261 OMIM
HGNC
HGNC:6240 HGNC
Ensembl
ENSG00000180509 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 24
Likely pathogenic 2 16
Benign 4 97
Likely benign 0 158
Conflicting classifications of pathogenicity 0 72
Conflicting classifications of pathogenicity; other; risk factor 0 2
not provided 0 24
Uncertain significance 2 300
Ranking
ClinVar
0
0
203
348
10
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 ISK
SYNONYM JLNS
SYNONYM JLNS2
SYNONYM LQT2/5
SYNONYM LQT5
SYNONYM MinK
MIM 176261 OMIM
HGNC HGNC:6240 HGNC
Ensembl ENSG00000180509 Ensembl
AllianceGenome HGNC:6240
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000416357.6 hg38 chr21 34,449,245 34,455,741 6,497
ENST00000432085.5 hg38 chr21 34,446,688 34,459,604 12,917
ENST00000621601.4 hg38 chr21 34,446,688 34,459,938 13,251
ENST00000611936.1 hg38 chr21 34,446,688 34,511,325 64,638
ENST00000337385.7 hg38 chr21 34,446,688 34,511,339 64,652
ENST00000399289.7 hg38 chr21 34,446,690 34,459,604 12,915
ENST00000399286.3 hg38 chr21 34,446,690 34,512,210 65,521
ENST00000399284.1 hg38 chr21 34,449,245 34,511,243 61,999
ENST00000432085.5 hg19 chr21 35,818,986 35,831,902 12,917
ENST00000621601.4 hg19 chr21 35,818,986 35,832,236 13,251
ENST00000611936.1 hg19 chr21 35,818,986 35,883,623 64,638
ENST00000337385.7 hg19 chr21 35,818,986 35,883,637 64,652
ENST00000399289.7 hg19 chr21 35,818,988 35,831,902 12,915
ENST00000399286.3 hg19 chr21 35,818,988 35,884,508 65,521
ENST00000416357.6 hg19 chr21 35,821,543 35,828,039 6,497
ENST00000399284.1 hg19 chr21 35,821,543 35,883,541 61,999
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