BCAT1 branched chain amino acid transaminase 1

Information
Symbol
BCAT1
Type
protein-coding
Description
branched chain amino acid transaminase 1
Entrez Gene ID
586
Genome
hg19
Position
chr12:24,970,415-25,056,009
Genome
hg38
Position
chr12:24,817,481-24,903,075
MIM
113520 OMIM
HGNC
HGNC:976 HGNC
Ensembl
ENSG00000060982 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 12
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
58
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 :
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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 BCATC
SYNONYM BCT1
SYNONYM ECA39
SYNONYM MECA39
SYNONYM PNAS121
SYNONYM PP18
MIM 113520 OMIM
HGNC HGNC:976 HGNC
Ensembl ENSG00000060982 Ensembl
AllianceGenome HGNC:976
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000539282.5 hg38 chr12 24,817,481 24,903,075 85,595
ENST00000539780.5 hg38 chr12 24,817,809 24,949,043 131,235
ENST00000538118.5 hg38 chr12 24,814,803 24,902,296 87,494
ENST00000261192.12 hg38 chr12 24,810,024 24,949,101 139,078
ENST00000342945.9 hg38 chr12 24,814,821 24,949,086 134,266
ENST00000261192.12 hg19 chr12 24,962,958 25,102,035 139,078
ENST00000538118.5 hg19 chr12 24,967,737 25,055,230 87,494
ENST00000342945.9 hg19 chr12 24,967,755 25,102,020 134,266
ENST00000539282.5 hg19 chr12 24,970,415 25,056,009 85,595
ENST00000539780.5 hg19 chr12 24,970,743 25,101,977 131,235
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