CKMT1B creatine kinase, mitochondrial 1B

Information
Symbol
CKMT1B
Type
protein-coding
Description
creatine kinase, mitochondrial 1B
Entrez Gene ID
1159
Genome
hg19
Position
chr15:43,886,225-43,891,604
Genome
hg38
Position
chr15:43,594,027-43,599,406
MIM
123290 OMIM
HGNC
HGNC:1995 HGNC
Ensembl
ENSG00000237289 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
22
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 :
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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 CKMT
SYNONYM CKMT1
SYNONYM UMTCK
MIM 123290 OMIM
HGNC HGNC:1995 HGNC
Ensembl ENSG00000237289 Ensembl
AllianceGenome HGNC:1995
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000300283.10 hg38 chr15 43,593,054 43,599,406 6,353
ENST00000441322.6 hg38 chr15 43,594,027 43,599,406 5,380
ENST00000627381.1 hg38 chr15 43,594,042 43,597,396 3,355
ENST00000300283.10 hg19 chr15 43,885,252 43,891,604 6,353
ENST00000441322.6 hg19 chr15 43,886,225 43,891,604 5,380
ENST00000627381.1 hg19 chr15 43,886,240 43,889,594 3,355
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