RAC1 Rac family small GTPase 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: RAC1
Type: protein-coding
Description: Rac family small GTPase 1
Entrez Gene ID: 5879
Genome: hg19
Position: chr7:6,414,170-6,442,151
Genome: hg38
Position: chr7:6,374,539-6,402,520
MIM: 602048 OMIM
HGNC: HGNC:9801 HGNC
Ensembl: ENSG00000136238 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1	22
Likely pathogenic	0	32
Benign	0	12
Likely benign	0	18
Conflicting classifications of pathogenicity	0	4
not provided	21	0
Uncertain significance	1	46

Ranking

	ClinVar
	0
	0
	10
	98
	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

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	:
Search word	:
Filtering	:

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	MIG5
SYNONYM	MRD48
SYNONYM	Rac-1
SYNONYM	TC-25
SYNONYM	p21-Rac1
MIM	602048 OMIM
HGNC	HGNC:9801 HGNC
Ensembl	ENSG00000136238 Ensembl
AllianceGenome	HGNC:9801

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000348035.9	hg38	chr7	6,374,527	6,403,967	29,441
ENST00000704002.1	hg38	chr7	6,374,539	6,402,521	27,983
ENST00000356142.4	hg38	chr7	6,374,539	6,402,520	27,982
ENST00000348035.9	hg19	chr7	6,414,158	6,443,598	29,441
ENST00000356142.4	hg19	chr7	6,414,170	6,442,151	27,982
ENST00000704002.1	hg19	chr7	6,414,170	6,442,152	27,983

Key	Value
strand	+
start	6,414,125
Gene Symbol	RAC1
Entrez GeneId	5,879
Chr Band	7p22
end	6,443,597
chr	chr7
Name	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)

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