GTF2IRD2 GTF2I repeat domain containing 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: GTF2IRD2
Type: protein-coding
Description: GTF2I repeat domain containing 2
Entrez Gene ID: 84163
Genome: hg19
Position: chr7:74,210,483-74,267,847
Genome: hg38
Position: chr7:74,796,185-74,851,518
MIM: 608899 OMIM
HGNC: HGNC:30775 HGNC
Ensembl: ENSG00000196275 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	3
Likely benign	0	8
not provided	1	0
Uncertain significance	0	22

Ranking

	ClinVar
	0
	0
	0
	33
	0

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
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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	FP630
SYNONYM	GTF2IRD2 alpha
SYNONYM	GTF2IRD2A
MIM	608899 OMIM
HGNC	HGNC:30775 HGNC
Ensembl	ENSG00000196275 Ensembl
AllianceGenome	HGNC:30775

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000451013.7	hg38	chr7	74,796,151	74,851,605	55,455
ENST00000651129.1	hg38	chr7	74,796,185	74,851,518	55,334
ENST00000614386.1	hg38	chr7	74,832,633	74,851,529	18,897
ENST00000405086.2	hg19	chr7	74,210,483	74,267,847	57,365
ENST00000451013.2	hg19	chr7	74,210,490	74,221,288	10,799
ENST00000361071.5	hg19	chr7	74,213,351	74,267,836	54,486
ENST00000453619.2	hg19	chr7	74,213,369	74,267,836	54,468
ENST00000417115.2	hg19	chr7	74,247,766	74,267,846	20,081

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