ABCB5 ATP binding cassette subfamily B member 5

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: ABCB5
Type: protein-coding
Description: ATP binding cassette subfamily B member 5
Entrez Gene ID: 340273
Genome: hg19
Position: chr7:20,655,290-20,796,631
Genome: hg38
Position: chr7:20,615,667-20,757,008
MIM: 611785 OMIM
HGNC: HGNC:46 HGNC
Ensembl: ENSG00000004846 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	14
Uncertain significance	0	140

Ranking

	ClinVar
	0
	0
	0
	162
	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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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

Search Word

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

Search Word

Target data	:	MGeND data only
Category	:
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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	ABCB5alpha
SYNONYM	ABCB5beta
SYNONYM	EST422562
MIM	611785 OMIM
HGNC	HGNC:46 HGNC
Ensembl	ENSG00000004846 Ensembl
AllianceGenome	HGNC:46

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000404938.7	hg38	chr7	20,615,667	20,757,008	141,342
ENST00000443026.6	hg38	chr7	20,647,343	20,660,394	13,052
ENST00000406935.5	hg38	chr7	20,647,343	20,667,323	19,981
ENST00000258738.10	hg38	chr7	20,647,422	20,755,624	108,203
ENST00000404938.7	hg19	chr7	20,655,290	20,796,631	141,342
ENST00000443026.6	hg19	chr7	20,686,966	20,700,017	13,052
ENST00000406935.5	hg19	chr7	20,686,966	20,706,946	19,981
ENST00000258738.10	hg19	chr7	20,687,045	20,795,247	108,203

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