KLHL28 kelch like family member 28

Information
Symbol
KLHL28
Type
protein-coding
Description
kelch like family member 28
Entrez Gene ID
54813
Genome
hg19
Position
chr14:45,398,016-45,430,335
Genome
hg38
Position
chr14:44,928,813-44,961,132
HGNC
HGNC:19741 HGNC
Ensembl
ENSG00000179454 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
56
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 BTBD5
HGNC HGNC:19741 HGNC
Ensembl ENSG00000179454 Ensembl
AllianceGenome HGNC:19741
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396128.9 hg38 chr14 44,924,324 44,961,947 37,624
ENST00000355081.3 hg38 chr14 44,928,813 44,961,132 32,320
ENST00000396128.9 hg19 chr14 45,393,527 45,431,150 37,624
ENST00000355081.3 hg19 chr14 45,398,016 45,430,335 32,320
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