CLPB ClpB family mitochondrial disaggregase

Information
Symbol
CLPB
Type
protein-coding
Description
ClpB family mitochondrial disaggregase
Entrez Gene ID
81570
Genome
hg19
Position
chr11:71,996,539-72,145,575
Genome
hg38
Position
chr11:72,285,495-72,434,531
MIM
616254 OMIM
HGNC
HGNC:30664 HGNC
Ensembl
ENSG00000162129 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 68
Likely pathogenic 0 30
Benign 0 90
Likely benign 0 522
Conflicting classifications of pathogenicity 0 32
not provided 0 8
Uncertain significance 0 622
Ranking
ClinVar
0
0
222
1,050
20
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 :
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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 ANKCLB
SYNONYM ANKCLP
SYNONYM HSP78
SYNONYM MEGCANN
SYNONYM MGCA7
SYNONYM MGCA7A
SYNONYM SCN9
SYNONYM SKD3
MIM 616254 OMIM
HGNC HGNC:30664 HGNC
Ensembl ENSG00000162129 Ensembl
AllianceGenome HGNC:30664
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340729.9 hg38 chr11 72,293,303 72,434,534 141,232
ENST00000294053.9 hg38 chr11 72,285,495 72,434,531 149,037
ENST00000542555.3 hg38 chr11 72,428,806 72,434,474 5,669
ENST00000538039.6 hg38 chr11 72,285,495 72,434,531 149,037
ENST00000646117.1 hg38 chr11 72,336,615 72,434,629 98,015
ENST00000543042.6 hg38 chr11 72,293,303 72,434,607 141,305
ENST00000538039.6 hg19 chr11 71,996,539 72,145,575 149,037
ENST00000294053.9 hg19 chr11 71,996,539 72,145,575 149,037
ENST00000340729.9 hg19 chr11 72,004,347 72,145,578 141,232
ENST00000542555.3 hg19 chr11 72,139,850 72,145,518 5,669
ENST00000543042.6 hg19 chr11 72,004,347 72,145,651 141,305
ENST00000646117.1 hg19 chr11 72,047,659 72,145,673 98,015
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