SH2B3 SH2B adaptor protein 3

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

Symbol: SH2B3
Type: protein-coding
Description: SH2B adaptor protein 3
Entrez Gene ID: 10019
Genome: hg19
Position: chr12:111,843,727-111,889,427
Genome: hg38
Position: chr12:111,405,923-111,451,623
MIM: 605093 OMIM
HGNC: HGNC:29605 HGNC
Ensembl: ENSG00000111252 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	8
Likely pathogenic	0	6
Benign	8	38
Likely benign	0	30
Affects	0	2
Conflicting classifications of pathogenicity	0	4
not provided	30	0
Uncertain significance	0	90

Ranking

	ClinVar
	0
	0
	24
	128
	14

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	:
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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	IDDM20
SYNONYM	LNK
MIM	605093 OMIM
HGNC	HGNC:29605 HGNC
Ensembl	ENSG00000111252 Ensembl
AllianceGenome	HGNC:29605

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000341259.7	hg38	chr12	111,405,923	111,451,623	45,701
ENST00000538307.1	hg38	chr12	111,434,862	111,449,202	14,341
ENST00000341259.7	hg19	chr12	111,843,727	111,889,427	45,701
ENST00000538307.1	hg19	chr12	111,872,666	111,887,006	14,341

Key	Value
strand	+
start	111,843,751
Gene Symbol	SH2B3
Entrez GeneId	10,019
Chr Band	12q24.12
end	111,889,426
chr	chr12
Name	SH2B adaptor protein 3

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