BAK1 BCL2 antagonist/killer 1

Information
Symbol
BAK1
Type
protein-coding
Description
BCL2 antagonist/killer 1
Entrez Gene ID
578
Genome
hg19
Position
chr6:33,540,329-33,548,053
Genome
hg38
Position
chr6:33,572,552-33,580,276
MIM
600516 OMIM
HGNC
HGNC:949 HGNC
Ensembl
ENSG00000030110 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 1 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
20
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
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 BAK
SYNONYM BAK-LIKE
SYNONYM BCL2L7
SYNONYM CDN1
MIM 600516 OMIM
HGNC HGNC:949 HGNC
Ensembl ENSG00000030110 Ensembl
AllianceGenome HGNC:949
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374467.4 hg38 chr6 33,572,552 33,580,276 7,725
ENST00000442998.6 hg38 chr6 33,572,547 33,580,293 7,747
ENST00000442998.6 hg19 chr6 33,540,324 33,548,070 7,747
ENST00000374467.4 hg19 chr6 33,540,329 33,548,053 7,725
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