KCNJ11 potassium inwardly rectifying channel subfamily J member 11

Information
Symbol
KCNJ11
Type
protein-coding
Description
potassium inwardly rectifying channel subfamily J member 11
Entrez Gene ID
3767
Genome
hg19
Position
chr11:17,406,795-17,410,206
Genome
hg38
Position
chr11:17,385,248-17,388,659
MIM
600937 OMIM
HGNC
HGNC:6257 HGNC
Ensembl
ENSG00000187486 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 50
Likely pathogenic 0 68
Benign 6 30
Likely benign 0 202
Conflicting classifications of pathogenicity 0 238
drug response 0 4
Likely risk allele 0 6
not provided 0 8
Uncertain significance 0 330
Ranking
ClinVar
0
0
184
470
6
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 BIR
SYNONYM HHF2
SYNONYM IKATP
SYNONYM KIR6.2
SYNONYM MODY13
SYNONYM PHHI
SYNONYM PNDM2
SYNONYM TNDM3
MIM 600937 OMIM
HGNC HGNC:6257 HGNC
Ensembl ENSG00000187486 Ensembl
AllianceGenome HGNC:6257
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000682764.1 hg38 chr11 17,365,172 17,388,894 23,723
ENST00000528731.1 hg38 chr11 17,385,859 17,389,331 3,473
ENST00000339994.5 hg38 chr11 17,385,248 17,388,659 3,412
ENST00000682350.1 hg38 chr11 17,385,882 17,388,910 3,029
ENST00000682764.1 hg19 chr11 17,386,719 17,410,441 23,723
ENST00000339994.5 hg19 chr11 17,406,795 17,410,206 3,412
ENST00000528731.1 hg19 chr11 17,407,406 17,410,878 3,473
ENST00000682350.1 hg19 chr11 17,407,429 17,410,457 3,029
Genome browser