KCNF1 potassium voltage-gated channel modifier subfamily F member 1

Information
Symbol
KCNF1
Type
protein-coding
Description
potassium voltage-gated channel modifier subfamily F member 1
Entrez Gene ID
3754
Genome
hg19
Position
chr2:11,052,060-11,054,351
Genome
hg38
Position
chr2:10,911,934-10,914,225
MIM
603787 OMIM
HGNC
HGNC:6246 HGNC
Ensembl
ENSG00000162975 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Likely pathogenic 0 2
Benign 0 4
Likely benign 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
34
4
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 :
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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 IK8
SYNONYM KCNF
SYNONYM KV5.1
SYNONYM kH1
MIM 603787 OMIM
HGNC HGNC:6246 HGNC
Ensembl ENSG00000162975 Ensembl
AllianceGenome HGNC:6246
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295082.3 hg38 chr2 10,911,934 10,914,225 2,292
ENST00000295082.3 hg19 chr2 11,052,060 11,054,351 2,292
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