FLCN folliculin

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: FLCN
Type: protein-coding
Description: folliculin
Entrez Gene ID: 201163
Genome: hg19
Position: chr17:17,115,526-17,140,482
Genome: hg38
Position: chr17:17,212,212-17,237,168
MIM: 607273 OMIM
HGNC: HGNC:27310 HGNC
Ensembl: ENSG00000154803 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	9	612
Likely pathogenic	1	152
Benign	4	186
Likely benign	1	1,478
Conflicting classifications of pathogenicity	0	370
not provided	8	2
Uncertain significance	16	1,832

Ranking

	ClinVar
	0
	0
	1,526
	2,498
	98

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	BHD
SYNONYM	DENND8B
SYNONYM	FLCL
MIM	607273 OMIM
HGNC	HGNC:27310 HGNC
Ensembl	ENSG00000154803 Ensembl
AllianceGenome	HGNC:27310

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000389169.9	hg38	chr17	17,221,171	17,237,139	15,969
ENST00000285071.9	hg38	chr17	17,212,212	17,237,168	24,957
ENST00000285071.9	hg19	chr17	17,115,526	17,140,482	24,957
ENST00000389169.9	hg19	chr17	17,124,485	17,140,453	15,969

Key	Value
strand	-
UniProt	TSG
start	17,115,526
Gene Symbol	FLCN
Entrez GeneId	201,163
Chr Band	17p11.2
end	17,140,501
chr	chr17
Name	folliculin

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