JAK3 Janus kinase 3

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: JAK3
Type: protein-coding
Description: Janus kinase 3
Entrez Gene ID: 3718
Genome: hg19
Position: chr19:17,935,591-17,958,791
Genome: hg38
Position: chr19:17,824,782-17,847,982
MIM: 600173 OMIM
HGNC: HGNC:6193 HGNC
Ensembl: ENSG00000105639 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	5	144
Likely pathogenic	1	82
Benign	0	222
Likely benign	0	1,204
Affects	0	2
Conflicting classifications of pathogenicity	0	76
no classification for the single variant	0	2
not provided	48	18
Uncertain significance	6	688

Ranking

	ClinVar
	0
	52
	200
	2,046
	16

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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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	JAK-3
SYNONYM	JAK3_HUMAN
SYNONYM	JAKL
SYNONYM	L-JAK
SYNONYM	LJAK
MIM	600173 OMIM
HGNC	HGNC:6193 HGNC
Ensembl	ENSG00000105639 Ensembl
AllianceGenome	HGNC:6193

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000527670.5	hg38	chr19	17,826,152	17,844,447	18,296
ENST00000458235.7	hg38	chr19	17,824,782	17,847,982	23,201
ENST00000534444.1	hg38	chr19	17,829,788	17,848,017	18,230
ENST00000458235.7	hg19	chr19	17,935,591	17,958,791	23,201
ENST00000527670.5	hg19	chr19	17,936,961	17,955,256	18,296
ENST00000534444.1	hg19	chr19	17,940,597	17,958,826	18,230

Key	Value
strand	-
start	17,935,592
Vogelstein	OG
Gene Symbol	JAK3
Entrez GeneId	3,718
Chr Band	19p13.1
end	17,958,840
chr	chr19
Name	Janus kinase 3

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