TBX3 T-box transcription factor 3

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: TBX3
Type: protein-coding
Description: T-box transcription factor 3
Entrez Gene ID: 6926
Genome: hg19
Position: chr12:115,108,060-115,121,395
Genome: hg38
Position: chr12:114,670,255-114,683,590
MIM: 601621 OMIM
HGNC: HGNC:11602 HGNC
Ensembl: ENSG00000135111 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	2	28
Likely pathogenic	0	22
Benign	4	124
Likely benign	0	296
Conflicting classifications of pathogenicity	0	30
not provided	21	0
Uncertain significance	0	450

Ranking

	ClinVar
	0
	0
	160
	714
	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

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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

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	TBX3-ISO
SYNONYM	UMS
SYNONYM	XHL
MIM	601621 OMIM
HGNC	HGNC:11602 HGNC
Ensembl	ENSG00000135111 Ensembl
AllianceGenome	HGNC:11602

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000257566.7	hg38	chr12	114,670,255	114,683,590	13,336
ENST00000349155.7	hg38	chr12	114,670,255	114,684,175	13,921
ENST00000257566.7	hg19	chr12	115,108,060	115,121,395	13,336
ENST00000349155.7	hg19	chr12	115,108,060	115,121,980	13,921

Key	Value
strand	-
start	115,108,058
Gene Symbol	TBX3
Entrez GeneId	6,926
Chr Band	12q24.21
end	115,121,968
chr	chr12
Name	T-box 3

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