KBTBD6 kelch repeat and BTB domain containing 6

Information
Symbol
KBTBD6
Type
protein-coding
Description
kelch repeat and BTB domain containing 6
Entrez Gene ID
89890
Genome
hg19
Position
chr13:41,701,705-41,706,938
Genome
hg38
Position
chr13:41,127,569-41,132,802
MIM
617738 OMIM
HGNC
HGNC:25340 HGNC
Ensembl
ENSG00000165572 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 32
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
MIM 617738 OMIM
HGNC HGNC:25340 HGNC
Ensembl ENSG00000165572 Ensembl
AllianceGenome HGNC:25340
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379485.2 hg38 chr13 41,127,569 41,132,802 5,234
ENST00000379485.2 hg19 chr13 41,701,705 41,706,938 5,234
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