FGF3 fibroblast growth factor 3

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Clinical Significance
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Frequency
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Information

Symbol: FGF3
Type: protein-coding
Description: fibroblast growth factor 3
Entrez Gene ID: 2248
Genome: hg19
Position: chr11:69,624,736-69,634,184
Genome: hg38
Position: chr11:69,809,968-69,819,416
MIM: 164950 OMIM
HGNC: HGNC:3681 HGNC
Ensembl: ENSG00000186895 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	20
Likely pathogenic	0	20
Benign	1	32
Likely benign	0	62
Conflicting classifications of pathogenicity	0	6
not provided	129	4
Uncertain significance	0	82

Ranking

	ClinVar
	0
	0
	42
	142
	18

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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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	HBGF-3
SYNONYM	INT2
MIM	164950 OMIM
HGNC	HGNC:3681 HGNC
Ensembl	ENSG00000186895 Ensembl
AllianceGenome	HGNC:3681

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000334134.4	hg38	chr11	69,809,968	69,819,416	9,449
ENST00000334134.4	hg19	chr11	69,624,736	69,634,184	9,449

Key	Value
strand	-
UniProt	OG
start	69,624,735
Gene Symbol	FGF3
Entrez GeneId	2,248
Chr Band	11q13
end	69,634,191
chr	chr11

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