IL7R interleukin 7 receptor

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

Symbol: IL7R
Type: protein-coding
Description: interleukin 7 receptor
Entrez Gene ID: 3575
Genome: hg19
Position: chr5:35,856,993-35,879,705
Genome: hg38
Position: chr5:35,856,891-35,879,603
MIM: 146661 OMIM
HGNC: HGNC:6024 HGNC
Ensembl: ENSG00000168685 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	80
Likely pathogenic	0	30
Benign	0	138
Likely benign	0	420
Conflicting classifications of pathogenicity	0	28
no classification for the single variant	0	6
not provided	25	4
risk factor	0	2
Uncertain significance	2	386

Ranking

	ClinVar
	0
	64
	94
	874
	8

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

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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

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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	CD127
SYNONYM	CDW127
SYNONYM	IL-7R-alpha
SYNONYM	IL-7Ralpha
SYNONYM	IL7RA
SYNONYM	IL7Ralpha
SYNONYM	ILRA
SYNONYM	IMD104
SYNONYM	lnc-IL7R
SYNONYM	sIL-7R
MIM	146661 OMIM
HGNC	HGNC:6024 HGNC
Ensembl	ENSG00000168685 Ensembl
AllianceGenome	HGNC:6024

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000303115.8	hg38	chr5	35,856,891	35,879,603	22,713
ENST00000506850.5	hg38	chr5	35,856,891	35,875,722	18,832
ENST00000511982.1	hg38	chr5	35,856,892	35,867,610	10,719
ENST00000506850.5	hg19	chr5	35,856,993	35,875,824	18,832
ENST00000303115.8	hg19	chr5	35,856,993	35,879,705	22,713
ENST00000511982.1	hg19	chr5	35,856,994	35,867,712	10,719

Key	Value
strand	+
start	35,856,976
Gene Symbol	IL7R
Entrez GeneId	3,575
Chr Band	5p13
end	35,879,704
chr	chr5
Name	interleukin 7 receptor

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