CX3CR1 C-X3-C motif chemokine receptor 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: CX3CR1
Type: protein-coding
Description: C-X3-C motif chemokine receptor 1
Entrez Gene ID: 1524
Genome: hg19
Position: chr3:39,304,986-39,323,226
Genome: hg38
Position: chr3:39,263,495-39,281,735
MIM: 601470 OMIM
HGNC: HGNC:2558 HGNC
Ensembl: ENSG00000168329 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	20
Conflicting classifications of pathogenicity	0	2
no classification for the single variant	0	4
not provided	0	2
Uncertain significance	0	34

Ranking

	ClinVar
	0
	0
	4
	54
	2

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	CCRL1
SYNONYM	CMKBRL1
SYNONYM	CMKDR1
SYNONYM	GPR13
SYNONYM	GPRV28
SYNONYM	V28
MIM	601470 OMIM
HGNC	HGNC:2558 HGNC
Ensembl	ENSG00000168329 Ensembl
AllianceGenome	HGNC:2558

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000358309.3	hg38	chr3	39,263,495	39,281,735	18,241
ENST00000399220.3	hg38	chr3	39,263,496	39,280,036	16,541
ENST00000541347.5	hg38	chr3	39,263,495	39,281,273	17,779
ENST00000542107.5	hg38	chr3	39,263,495	39,280,439	16,945
ENST00000542107.5	hg19	chr3	39,304,986	39,321,930	16,945
ENST00000541347.5	hg19	chr3	39,304,986	39,322,764	17,779
ENST00000358309.3	hg19	chr3	39,304,986	39,323,226	18,241
ENST00000399220.3	hg19	chr3	39,304,987	39,321,527	16,541

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