KBTBD3 kelch repeat and BTB domain containing 3

Information
Symbol
KBTBD3
Type
protein-coding
Description
kelch repeat and BTB domain containing 3
Entrez Gene ID
143879
Genome
hg19
Position
chr11:105,921,825-105,948,074
Genome
hg38
Position
chr11:106,051,098-106,077,347
HGNC
HGNC:22934 HGNC
Ensembl
ENSG00000182359 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
64
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 :
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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 BKLHD3
HGNC HGNC:22934 HGNC
Ensembl ENSG00000182359 Ensembl
AllianceGenome HGNC:22934
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000531482.2 hg38 chr11 106,057,426 106,059,111 1,686
ENST00000534815.1 hg38 chr11 106,051,098 106,077,349 26,252
ENST00000526793.5 hg38 chr11 106,051,098 106,077,459 26,362
ENST00000531837.2 hg38 chr11 106,051,098 106,077,347 26,250
ENST00000531837.2 hg19 chr11 105,921,825 105,948,074 26,250
ENST00000534815.1 hg19 chr11 105,921,825 105,948,076 26,252
ENST00000526793.5 hg19 chr11 105,921,825 105,948,186 26,362
ENST00000531482.2 hg19 chr11 105,928,153 105,929,838 1,686
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