BBC3 BCL2 binding component 3

Information
Symbol
BBC3
Type
protein-coding
Description
BCL2 binding component 3
Entrez Gene ID
27113
Genome
hg19
Position
chr19:47,724,081-47,736,023
Genome
hg38
Position
chr19:47,220,824-47,232,766
MIM
605854 OMIM
HGNC
HGNC:17868 HGNC
Ensembl
ENSG00000105327 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 14
not provided 2 0
Uncertain significance 0 30
Ranking
ClinVar
0
0
2
42
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 :
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 JFY-1
SYNONYM JFY1
SYNONYM PUMA
MIM 605854 OMIM
HGNC HGNC:17868 HGNC
Ensembl ENSG00000105327 Ensembl
AllianceGenome HGNC:17868
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000341983.8 hg38 chr19 47,220,824 47,232,766 11,943
ENST00000300880.11 hg38 chr19 47,220,824 47,232,766 11,943
ENST00000449228.5 hg38 chr19 47,220,824 47,232,766 11,943
ENST00000439096.3 hg38 chr19 47,220,824 47,231,199 10,376
ENST00000439096.3 hg19 chr19 47,724,081 47,734,456 10,376
ENST00000300880.11 hg19 chr19 47,724,081 47,736,023 11,943
ENST00000341983.8 hg19 chr19 47,724,081 47,736,023 11,943
ENST00000449228.5 hg19 chr19 47,724,081 47,736,023 11,943
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