KLHDC8B kelch domain containing 8B

Information
Symbol
KLHDC8B
Type
protein-coding
Description
kelch domain containing 8B
Entrez Gene ID
200942
Genome
hg19
Position
chr3:49,209,031-49,213,919
Genome
hg38
Position
chr3:49,171,598-49,176,486
MIM
613169 OMIM
HGNC
HGNC:28557 HGNC
Ensembl
ENSG00000185909 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 8
Likely benign 0 66
Uncertain significance 0 102
Ranking
ClinVar
0
0
16
158
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 :
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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 CHL
MIM 613169 OMIM
HGNC HGNC:28557 HGNC
Ensembl ENSG00000185909 Ensembl
AllianceGenome HGNC:28557
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000332780.4 hg38 chr3 49,171,598 49,176,486 4,889
ENST00000332780.4 hg19 chr3 49,209,031 49,213,919 4,889
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