KBTBD7 kelch repeat and BTB domain containing 7

Information
Symbol
KBTBD7
Type
protein-coding
Description
kelch repeat and BTB domain containing 7
Entrez Gene ID
84078
Genome
hg19
Position
chr13:41,763,970-41,768,705
Genome
hg38
Position
chr13:41,189,834-41,194,569
MIM
617739 OMIM
HGNC
HGNC:25266 HGNC
Ensembl
ENSG00000120696 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
58
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
[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 617739 OMIM
HGNC HGNC:25266 HGNC
Ensembl ENSG00000120696 Ensembl
AllianceGenome HGNC:25266
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379483.4 hg38 chr13 41,189,834 41,194,569 4,736
ENST00000379483.4 hg19 chr13 41,763,970 41,768,705 4,736
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