BAX BCL2 associated X, apoptosis regulator

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: BAX
Type: protein-coding
Description: BCL2 associated X, apoptosis regulator
Entrez Gene ID: 581
Genome: hg19
Position: chr19:49,458,186-49,465,055
Genome: hg38
Position: chr19:48,954,929-48,961,798
MIM: 600040 OMIM
HGNC: HGNC:959 HGNC
Ensembl: ENSG00000087088 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	6
Benign	0	2
Likely benign	0	6
Uncertain significance	0	26

Ranking

	ClinVar
	0
	0
	0
	34
	6

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
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	BCL2L4
MIM	600040 OMIM
HGNC	HGNC:959 HGNC
Ensembl	ENSG00000087088 Ensembl
AllianceGenome	HGNC:959

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000345358.12	hg38	chr19	48,954,875	48,961,798	6,924
ENST00000415969.6	hg38	chr19	48,954,929	48,961,636	6,708
ENST00000354470.7	hg38	chr19	48,954,929	48,961,637	6,709
ENST00000539787.2	hg38	chr19	48,954,929	48,961,097	6,169
ENST00000293288.12	hg38	chr19	48,954,929	48,961,798	6,870
ENST00000345358.12	hg19	chr19	49,458,132	49,465,055	6,924
ENST00000539787.2	hg19	chr19	49,458,186	49,464,354	6,169
ENST00000415969.6	hg19	chr19	49,458,186	49,464,893	6,708
ENST00000354470.7	hg19	chr19	49,458,186	49,464,894	6,709
ENST00000293288.12	hg19	chr19	49,458,186	49,465,055	6,870

Key	Value
strand	+
UniProt	TSG
start	49,458,116
Gene Symbol	BAX
Entrez GeneId	581
Chr Band	19q13.3-q13.4
end	49,465,054
chr	chr19

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