Factor VII Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

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TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Search Results: 14 unique variants retrieved

c.325C>T

p.Gln109* (Legacy AA No. 49)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

CAG > TAG

Variant Effect:

Nonsense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
352		<1			Heterozygous	5	severe		Giansily-Blaizot et al 2001

c.335C>G

p.Ser112* (Legacy AA No. 52)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

TGA > TCA

Variant Effect:

Nonsense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
458	1			UK	Homozygous	-	Severe		Giansily-Blaizot et al 2003

c.345C>A

p.Cys115* (Legacy AA No. 55)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

TGA > TGC

Variant Effect:

Nonsense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
767	<10			UK	Heterozygous	1	Severe		Lee et al 2008

c.349A>G

p.Asn117Asp (Legacy AA No. 57)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

AAT > GAT

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
205		67		102	Heterozygous	1	unknown		Leonard et al 1998
206		32		51	Heterozygous	1	unknown	FVII HAMILTON	Leonard et al 1998
207		57		86	Heterozygous	1	unknown		Leonard et al 1998
2		75		96	Heterozygous	1	unknown		Leonard et al 1998

c.350A>T

p.Asn117Ile (Legacy AA No. 57)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

AAT > ATT

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
346		<1		2	Homozygous	4	severe	Clinical phenotype: hemophiliac like	Giansily-Blaizot et al 2001

c.358T>C

p.Ser120Pro (Legacy AA No. 60)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

TCC > CCC

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
508	5_<10		UK	Heterozygous	1	Mild	Herrmann et al 2000
220	2 to 9			Heterozygous	6	mild	Wulff et al 2000

c.362G>T

p.Cys121Phe (Legacy AA No. 61)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

TGC > TTC

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
297		1		7	Heterozygous	3	severe		Millar et al 2000

c.363C>A

p.Cys121* (Legacy AA No. 61)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

TGC > TGA

Variant Effect:

Nonsense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
334	2			49	Heterozygous	1	moderate		Au et al 2000

c.374T>C

p.Leu125Pro (Legacy AA No. 65)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CTC > CCC

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
173		1		9	Heterozygous	3	severe		Millar et al 2000

c.383A>G

p.Tyr128Cys (Legacy AA No. 68)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

TAT > TGT

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
450	0_<2			UK	Homozygous	-	Severe		Liu et al 2015
222		41		44	Heterozygous	2	mild		Millar et al 2000
219		1			Heterozygous	7	severe		Wulff et al 2000

c.396C>A

p.Cys132* (Legacy AA No. 72)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

TGA > TGC

Variant Effect:

Nonsense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
483	<1			<1	Homozygous	-	Severe		Chafa et al 2004

c.413G>A

p.Gly138Asp (Legacy AA No. 78)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

GGC > GAC

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
563	1			UK	Heterozygous	1	Severe		Herrmann et al 2009
413	28				Heterozygous	5	Mild		Unpublished Submission
388	32				Heterozygous	5	Severe	Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp	Unpublished Submission

c.415C>T

p.Arg139Trp (Legacy AA No. 79)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

CGG > TGG

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

8.3E-6

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
302		10	10	52	Heterozygous	3	asymptomatic		Takamiya et al 1993

c.416G>A

p.Arg139Gln (Legacy AA No. 79)

Variant Type:

Point

Domain:

EGF1

Sequence Context:

CGG > CAG

Variant Effect:

Missense

Location:

Exon (5)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

0.0005875

Molecular Graphics and Amino-acid Alignments

Please click here to see if there is the available information.

Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
89			<1	100	Homozygous	1	severe		Chaing et al 1994
4			20	76	Homozygous	-	asymptomatic		Takamiya et al 1993
5				115	Homozygous	-	unknown	FVII SHINJO	Takamiya et al 1995
6			66	100	Heterozygous	1	asymptomatic	Both Variants in cis	Chaing et al 1994
469		105	8	85	Heterozygous	1	Asymptomatic		Mourey et al 2014

Factor VII Variant Database

Factor VII Gene (F7)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Search Results: 14 unique variants retrieved

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR