KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5

Information
Symbol
KCNE5
Type
protein-coding
Description
potassium voltage-gated channel subfamily E regulatory subunit 5
Entrez Gene ID
23630
Genome
hg19
Position
chrX:108,866,929-108,868,401
Genome
hg38
Position
chrX:109,623,700-109,625,172
MIM
300328 OMIM
HGNC
HGNC:6241 HGNC
Ensembl
ENSG00000176076 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 60
Conflicting classifications of pathogenicity 0 6
not provided 6 0
Uncertain significance 2 100
Ranking
ClinVar
0
0
36
124
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 :
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 KCNE1L
MIM 300328 OMIM
HGNC HGNC:6241 HGNC
Ensembl ENSG00000176076 Ensembl
AllianceGenome HGNC:6241
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372101.3 hg38 chrX 109,623,700 109,625,172 1,473
ENST00000372101.3 hg19 chrX 108,866,929 108,868,401 1,473
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