CKMT1A creatine kinase, mitochondrial 1A

Information
Symbol
CKMT1A
Type
protein-coding
Description
creatine kinase, mitochondrial 1A
Entrez Gene ID
548596
Genome
hg19
Position
chr15:43,985,084-43,991,420
Genome
hg38
Position
chr15:43,692,886-43,699,222
MIM
613415 OMIM
HGNC
HGNC:31736 HGNC
Ensembl
ENSG00000223572 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
16
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 :
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
SYNONYM CKMT1
SYNONYM U-MtCK
SYNONYM mia-CK
MIM 613415 OMIM
HGNC HGNC:31736 HGNC
Ensembl ENSG00000223572 Ensembl
AllianceGenome HGNC:31736
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000413453.7 hg38 chr15 43,693,859 43,699,222 5,364
ENST00000434505.5 hg38 chr15 43,692,886 43,699,222 6,337
ENST00000626814.1 hg38 chr15 43,693,875 43,697,217 3,343
ENST00000434505.5 hg19 chr15 43,985,084 43,991,420 6,337
ENST00000413453.7 hg19 chr15 43,986,057 43,991,420 5,364
ENST00000626814.1 hg19 chr15 43,986,073 43,989,415 3,343
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