FGFR3 fibroblast growth factor receptor 3

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

Symbol: FGFR3
Type: protein-coding
Description: fibroblast growth factor receptor 3
Entrez Gene ID: 2261
Genome: hg19
Position: chr4:1,795,020-1,810,594
Genome: hg38
Position: chr4:1,793,293-1,808,867
MIM: 134934 OMIM
HGNC: HGNC:3690 HGNC
Ensembl: ENSG00000068078 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	24	86
Likely pathogenic	0	48
Benign	30	194
Likely benign	80	770
Conflicting classifications of pathogenicity	0	120
no classification for the single variant	0	2
not provided	408	14
other	5	0
Uncertain significance	5	720

Ranking

	ClinVar
	0
	0
	448
	1,242
	36

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	ACH
SYNONYM	CD333
SYNONYM	CEK2
SYNONYM	HSFGFR3EX
SYNONYM	JTK4
MIM	134934 OMIM
HGNC	HGNC:3690 HGNC
Ensembl	ENSG00000068078 Ensembl
AllianceGenome	HGNC:3690

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000412135.7	hg38	chr4	1,793,293	1,808,872	15,580
ENST00000440486.8	hg38	chr4	1,793,293	1,808,867	15,575
ENST00000340107.9	hg38	chr4	1,793,293	1,808,867	15,575
ENST00000481110.7	hg38	chr4	1,793,301	1,808,791	15,491
ENST00000352904.6	hg38	chr4	1,793,896	1,807,322	13,427
ENST00000340107.9	hg19	chr4	1,795,020	1,810,594	15,575
ENST00000440486.8	hg19	chr4	1,795,020	1,810,594	15,575
ENST00000412135.7	hg19	chr4	1,795,020	1,810,599	15,580
ENST00000481110.7	hg19	chr4	1,795,028	1,810,518	15,491
ENST00000352904.6	hg19	chr4	1,795,623	1,809,049	13,427

Key	Value
strand	+
start	1,795,038
Vogelstein	OG
Gene Symbol	FGFR3
Entrez GeneId	2,261
Chr Band	4p16.3
end	1,810,598
chr	chr4
Name	fibroblast growth factor receptor 3

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