UNC45B unc-45 myosin chaperone B

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Clinical Significance
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Frequency
Disease area statistics
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Information

Symbol: UNC45B
Type: protein-coding
Description: unc-45 myosin chaperone B
Entrez Gene ID: 146862
Genome: hg19
Position: chr17:33,474,836-33,516,364
Genome: hg38
Position: chr17:35,147,817-35,189,345
MIM: 611220 OMIM
HGNC: HGNC:14304 HGNC
Ensembl: ENSG00000141161 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	12
Likely pathogenic	0	2
Benign	0	136
Likely benign	0	158
Conflicting classifications of pathogenicity	0	4
Uncertain significance	0	182

Ranking

	ClinVar
	0
	0
	60
	406
	12

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

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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	CMYA4
SYNONYM	CTRCT43
SYNONYM	MFM11
SYNONYM	SMUNC45
SYNONYM	UNC-45B
SYNONYM	UNC45
MIM	611220 OMIM
HGNC	HGNC:14304 HGNC
Ensembl	ENSG00000141161 Ensembl
AllianceGenome	HGNC:14304

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000394570.7	hg38	chr17	35,147,817	35,189,343	41,527
ENST00000591048.2	hg38	chr17	35,148,264	35,186,559	38,296
ENST00000268876.9	hg38	chr17	35,147,817	35,189,345	41,529
ENST00000394570.7	hg19	chr17	33,474,836	33,516,362	41,527
ENST00000268876.9	hg19	chr17	33,474,836	33,516,364	41,529
ENST00000591048.2	hg19	chr17	33,475,283	33,513,578	38,296

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