BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha

Information
Symbol
BCKDHA
Type
protein-coding
Description
branched chain keto acid dehydrogenase E1 subunit alpha
Entrez Gene ID
593
Genome
hg19
Position
chr19:41,903,723-41,930,907
Genome
hg38
Position
chr19:41,397,818-41,425,002
MIM
608348 OMIM
HGNC
HGNC:986 HGNC
Ensembl
ENSG00000248098 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 188
Likely pathogenic 0 204
Benign 0 90
Likely benign 0 698
Conflicting classifications of pathogenicity 0 90
Uncertain significance 0 252
Ranking
ClinVar
0
0
312
1,002
4
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 :
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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 BCKDE1A
SYNONYM MSU
SYNONYM MSUD1
SYNONYM MSUD1A
SYNONYM OVD1A
MIM 608348 OMIM
HGNC HGNC:986 HGNC
Ensembl ENSG00000248098 Ensembl
AllianceGenome HGNC:986
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000457836.6 hg38 chr19 41,397,823 41,425,001 27,179
ENST00000269980.7 hg38 chr19 41,397,818 41,425,002 27,185
ENST00000269980.7 hg19 chr19 41,903,723 41,930,907 27,185
ENST00000457836.6 hg19 chr19 41,903,728 41,930,906 27,179
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