F7 coagulation factor VII

Go to:

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

Information

Symbol: F7
Type: protein-coding
Description: coagulation factor VII
Entrez Gene ID: 2155
Genome: hg19
Position: chr13:113,760,121-113,774,995
Genome: hg38
Position: chr13:113,105,807-113,120,681
MIM: 613878 OMIM
HGNC: HGNC:3544 HGNC
Ensembl: ENSG00000057593 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	60
Likely pathogenic	0	94
Benign	0	40
Likely benign	0	52
Conflicting classifications of pathogenicity	0	18
Likely pathogenic; other	0	2
no classification for the single variant	0	4
not provided	0	2
Uncertain significance	0	226

Ranking

	ClinVar
	0
	0
	64
	350
	32

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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
Category	:
Search word	:
Filtering	:

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	SPCA
MIM	613878 OMIM
HGNC	HGNC:3544 HGNC
Ensembl	ENSG00000057593 Ensembl
AllianceGenome	HGNC:3544

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000346342.8	hg38	chr13	113,105,791	113,120,685	14,895
ENST00000375581.3	hg38	chr13	113,105,807	113,120,681	14,875
ENST00000541084.5	hg38	chr13	113,105,788	113,120,678	14,891
ENST00000541084.5	hg19	chr13	113,760,102	113,774,992	14,891
ENST00000346342.8	hg19	chr13	113,760,105	113,774,999	14,895
ENST00000375581.3	hg19	chr13	113,760,121	113,774,995	14,875

Genome browser