FGFR4 fibroblast growth factor receptor 4

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

Symbol: FGFR4
Type: protein-coding
Description: fibroblast growth factor receptor 4
Entrez Gene ID: 2264
Genome: hg19
Position: chr5:176,513,916-176,525,145
Genome: hg38
Position: chr5:177,086,915-177,098,144
MIM: 134935 OMIM
HGNC: HGNC:3691 HGNC
Ensembl: ENSG00000160867 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	0	8
Benign	0	24
Likely benign	0	28
Conflicting classifications of pathogenicity	0	2
not provided	309	0
Uncertain significance	0	64

Ranking

	ClinVar
	0
	0
	6
	104
	10

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	CD334
SYNONYM	JTK2
SYNONYM	TKF
MIM	134935 OMIM
HGNC	HGNC:3691 HGNC
Ensembl	ENSG00000160867 Ensembl
AllianceGenome	HGNC:3691

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000393648.6	hg38	chr5	177,086,905	177,098,022	11,118
ENST00000292408.9	hg38	chr5	177,086,915	177,098,144	11,230
ENST00000393637.5	hg38	chr5	177,089,567	177,097,769	8,203
ENST00000502906.5	hg38	chr5	177,086,914	177,097,732	10,819
ENST00000393648.6	hg19	chr5	176,513,906	176,525,023	11,118
ENST00000502906.5	hg19	chr5	176,513,915	176,524,733	10,819
ENST00000292408.9	hg19	chr5	176,513,916	176,525,145	11,230
ENST00000393637.5	hg19	chr5	176,516,568	176,524,770	8,203

Key	Value
strand	+
start	176,513,872
Gene Symbol	FGFR4
Entrez GeneId	2,264
Chr Band	5q35.2
end	176,525,142
chr	chr5
Name	fibroblast growth factor receptor 4

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