KCNH3 potassium voltage-gated channel subfamily H member 3

Information
Symbol
KCNH3
Type
protein-coding
Description
potassium voltage-gated channel subfamily H member 3
Entrez Gene ID
23416
Genome
hg19
Position
chr12:49,932,813-49,952,120
Genome
hg38
Position
chr12:49,539,030-49,558,337
MIM
604527 OMIM
HGNC
HGNC:6252 HGNC
Ensembl
ENSG00000135519 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 6
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
112
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
[No Data.]
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 :
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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 BEC1
SYNONYM ELK2
SYNONYM Kv12.2
MIM 604527 OMIM
HGNC HGNC:6252 HGNC
Ensembl ENSG00000135519 Ensembl
AllianceGenome HGNC:6252
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000257981.7 hg38 chr12 49,539,030 49,558,337 19,308
ENST00000257981.7 hg19 chr12 49,932,813 49,952,120 19,308
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