KBTBD2 kelch repeat and BTB domain containing 2

Information
Symbol
KBTBD2
Type
protein-coding
Description
kelch repeat and BTB domain containing 2
Entrez Gene ID
25948
Genome
hg19
Position
chr7:32,907,784-32,931,372
Genome
hg38
Position
chr7:32,868,172-32,891,760
MIM
619393 OMIM
HGNC
HGNC:21751 HGNC
Ensembl
ENSG00000170852 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
40
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 :
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 BKLHD1
MIM 619393 OMIM
HGNC HGNC:21751 HGNC
Ensembl ENSG00000170852 Ensembl
AllianceGenome HGNC:21751
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000304056.9 hg38 chr7 32,868,172 32,891,760 23,589
ENST00000304056.9 hg19 chr7 32,907,784 32,931,372 23,589
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