KLHDC7B kelch domain containing 7B

Information
Symbol
KLHDC7B
Type
protein-coding
Description
kelch domain containing 7B
Entrez Gene ID
113730
Genome
hg19
Position
chr22:50,984,328-50,989,452
Genome
hg38
Position
chr22:50,545,899-50,551,023
MIM
620521 OMIM
HGNC
HGNC:25145 HGNC
Ensembl
ENSG00000130487 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 14
not provided 1 0
Uncertain significance 0 76
Ranking
ClinVar
0
0
0
90
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
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 620521 OMIM
HGNC HGNC:25145 HGNC
Ensembl ENSG00000130487 Ensembl
AllianceGenome HGNC:25145
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000648057.3 hg38 chr22 50,545,899 50,551,023 5,125
ENST00000395676.4 hg38 chr22 50,548,033 50,551,022 2,990
ENST00000648057.3 hg19 chr22 50,984,328 50,989,452 5,125
ENST00000395676.4 hg19 chr22 50,986,462 50,989,451 2,990
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