KCNQ4 potassium voltage-gated channel subfamily Q member 4

Information
Symbol
KCNQ4
Type
protein-coding
Description
potassium voltage-gated channel subfamily Q member 4
Entrez Gene ID
9132
Genome
hg19
Position
chr1:41,249,459-41,306,124
Genome
hg38
Position
chr1:40,783,787-40,840,452
MIM
603537 OMIM
HGNC
HGNC:6298 HGNC
Ensembl
ENSG00000117013 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 28 52
Likely pathogenic 0 34
Benign 16 118
Likely benign 0 190
Conflicting classifications of pathogenicity 0 22
not provided 0 4
Uncertain significance 0 308
Ranking
ClinVar
0
6
124
518
32
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 DFNA2
SYNONYM DFNA2A
SYNONYM KV7.4
MIM 603537 OMIM
HGNC HGNC:6298 HGNC
Ensembl ENSG00000117013 Ensembl
AllianceGenome HGNC:6298
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000509682.6 hg38 chr1 40,784,094 40,838,523 54,430
ENST00000347132.10 hg38 chr1 40,783,787 40,840,452 56,666
ENST00000347132.10 hg19 chr1 41,249,459 41,306,124 56,666
ENST00000509682.6 hg19 chr1 41,249,766 41,304,195 54,430
Genome browser