BCKDK branched chain keto acid dehydrogenase kinase

Information
Symbol
BCKDK
Type
protein-coding
Description
branched chain keto acid dehydrogenase kinase
Entrez Gene ID
10295
Genome
hg19
Position
chr16:31,117,428-31,123,888
Genome
hg38
Position
chr16:31,106,107-31,112,567
MIM
614901 OMIM
HGNC
HGNC:16902 HGNC
Ensembl
ENSG00000103507 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 10
Benign 0 14
Likely benign 0 92
Conflicting classifications of pathogenicity 0 12
not provided 0 2
Uncertain significance 0 144
Ranking
ClinVar
0
0
40
222
8
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 BCKDKD
SYNONYM BDK
MIM 614901 OMIM
HGNC HGNC:16902 HGNC
Ensembl ENSG00000103507 Ensembl
AllianceGenome HGNC:16902
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000219794.11 hg38 chr16 31,108,386 31,112,791 4,406
ENST00000394950.7 hg38 chr16 31,108,294 31,112,567 4,274
ENST00000394951.5 hg38 chr16 31,106,107 31,112,567 6,461
ENST00000287507.7 hg38 chr16 31,108,294 31,112,567 4,274
ENST00000394951.5 hg19 chr16 31,117,428 31,123,888 6,461
ENST00000287507.7 hg19 chr16 31,119,615 31,123,888 4,274
ENST00000394950.7 hg19 chr16 31,119,615 31,123,888 4,274
ENST00000219794.11 hg19 chr16 31,119,707 31,124,112 4,406
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