BBOX1 gamma-butyrobetaine hydroxylase 1

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Information

Symbol: BBOX1
Type: protein-coding
Description: gamma-butyrobetaine hydroxylase 1
Entrez Gene ID: 8424
Genome: hg19
Position: chr11:27,062,362-27,149,356
Genome: hg38
Position: chr11:27,040,815-27,127,809
MIM: 603312 OMIM
HGNC: HGNC:964 HGNC
Ensembl: ENSG00000129151 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	6
Likely benign	0	2
Uncertain significance	0	50

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

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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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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	BBH
SYNONYM	BBOX
SYNONYM	G-BBH
SYNONYM	gamma-BBH
MIM	603312 OMIM
HGNC	HGNC:964 HGNC
Ensembl	ENSG00000129151 Ensembl
AllianceGenome	HGNC:964

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000263182.8	hg38	chr11	27,040,815	27,127,809	86,995
ENST00000529202.5	hg38	chr11	27,040,725	27,127,675	86,951
ENST00000525090.1	hg38	chr11	27,055,217	27,127,671	72,455
ENST00000528583.5	hg38	chr11	27,041,313	27,127,809	86,497
ENST00000529202.5	hg19	chr11	27,062,272	27,149,222	86,951
ENST00000263182.8	hg19	chr11	27,062,362	27,149,356	86,995
ENST00000528583.5	hg19	chr11	27,062,860	27,149,356	86,497
ENST00000525090.1	hg19	chr11	27,076,764	27,149,218	72,455

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