Factor VII Variant Database

c.291+5G>T

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (3)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 3

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
500	4		UK	Heterozygous	1	Moderate	Herrmann et al 2000
218		4		Heterozygous	7	mild	Wulff et al 2000

c.291+1G>C

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Gla

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (3)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 3

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
510	<10			UK	Heterozygous	1	Asymptomatic		Herrmann et al 2000

c.291G>C

p.Thr97= (Legacy AA No. 37)

Variant Type:

Point

Domain:

Gla

Sequence Context:

Variant Effect:

Frameshift

Location:

Exon (3)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Frameshift) of the variant at Exon 3

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
296		1		19	Homozygous	2	severe		Millar et al 2000

c.291+1G>A

Splice Junction (Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

ACGgt > ACGct

Variant Effect:

Intronic

Location:

Intron (3)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 3

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
280		<1		<1	Homozygous	-	severe		Peyvandi et al 2000b
363		<1		17	Heterozygous	5	mild		Giansily-Blaizot et al 2001
217		10			Heterozygous	7	unknown		Wulff et al 2000

c.292-2A>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Gla

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (4)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 4

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
796	UK			UK	Homozygous	-	Severe		Fromovich-Amit et al 2005

c.292_1401del

???? (Legacy AA No. 38)

Variant Type:

Deletion

Domain:

Gla

Sequence Context:

Variant Effect:

Frameshift

Location:

Exon (4)

No of bases:

0

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 4

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
682	30_<50			UK	Heterozygous	1	Mild		Pavlova et al 2015

c.303G>C

p.Trp101Cys (Legacy AA No. 41)

Variant Type:

Point

Domain:

Gla

Sequence Context:

TGC > TGG

Variant Effect:

Missense

Location:

Exon (4)

No of bases:

1

No. of patients reported:

1

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
427	UK			UK	Heterozygous	-	Unknown		Chu et al 2002

c.316+5G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (4)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 4

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
371	<1			25	Heterozygous	6	severe		Giansily-Blaizot et al 2001

c.317-1G>A

Splice Junction (Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

agAT > aaAT

Variant Effect:

Intronic

Location:

Intron (4)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 4

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
570	1		UK	Heterozygous	1	Severe	Herrmann et al 2009
219		1		Heterozygous	7	severe	Wulff et al 2000

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:

1

No. of patients reported:

1

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:

1

No. of patients reported:

1

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:

1

No. of patients reported:

5

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:

1

No. of patients reported:

4

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
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
205		67		102	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:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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:

1

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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:

1

No. of patients reported:

1

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:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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:

1

No. of patients reported:

7

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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:

1

No. of patients reported:

2

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:

1

No. of patients reported:

4

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
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
413	28				Heterozygous	5	Mild		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:

1

No. of patients reported:

1

Allele Frequency (MAF):

8.3E-6

Molecular Graphics and Amino-acid Alignments

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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:

1

No. of patients reported:

7

Allele Frequency (MAF):

0.0005875

Molecular Graphics and Amino-acid Alignments

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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

c.430+1G>A

Splice Junction (Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

GC gt > GC at

Variant Effect:

Intronic

Location:

Intron (5)

No of bases:

1

No. of patients reported:

12

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 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
407			<1		Homozygous	-	severe	McVey et al 1998
8		05-Jul			Homozygous	6	unknown	Wulff et al 2000
369		<1		<1	Heterozygous	2	severe	Arbini et al 1996
455		<1		7	Heterozygous	1	Severe	Giansily-Blaizot et al 2001
370	2			7	Heterozygous	5	severe	Giansily-Blaizot et al 2001
7		3			Heterozygous	3	asymptomatic	Millar et al 2000
329			<1	6	Heterozygous	5	mild	Unpublished Submission

c.431-2A>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (5)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

1.88E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 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
783	UK			UK	Heterozygous	1	Severe		Ariffin et al 2003

c.451T>C

p.Cys151Arg (Legacy AA No. 91)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CGT > TGT

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
464	50			UK	Heterozygous	-		Haemorrhages and Thrombosis	Marty et al 2008

c.452G>C

p.Cys151Ser (Legacy AA No. 91)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

TGT > TCT

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
303		1		4	Homozygous	2	unknown		Millar et al 2000

c.460G>A

p.Glu154Lys (Legacy AA No. 94)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GAG > AAG

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

8.8E-6

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
512	UK		UK	Homozygous	-	Asymptomatic	Herrmann et al 2009
234	13			Homozygous	6	unknown	Wulff et al 2000

c.466G>A

p.Gly156Ser (Legacy AA No. 96)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGC > AGC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

5

Allele Frequency (MAF):

3.49E-5

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
522	<4		UK	Homozygous	-		thrombotic episode	Herrmann et al 2009
357	2		15	Heterozygous	5	mild		Giansily-Blaizot et al 2001

c.469G>T

p.Gly157Cys (Legacy AA No. 97)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGC > TGC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
9		<1	2	Homozygous	3	mild		Hunault et al 1999
383		52	56	Heterozygous	4	unknown		Bernardi et al 1993
95		2	10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
192	<1		8	Heterozygous	6	mild		Giansily-Blaizot et al 2001

c.469G>A

p.Gly157Ser (Legacy AA No. 97)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGC > AGC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

5

Allele Frequency (MAF):

2.61E-5

Molecular Graphics and Amino-acid Alignments

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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
11		27		35	Heterozygous	4	asymptomatic		Bernardi et al 1993
589	30_<50			UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009
10		14-40			Heterozygous	8	asymptomatic		Wulff et al 2000

c.470G>T

p.Gly157Val (Legacy AA No. 97)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGC > GTC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

8.7E-6

Molecular Graphics and Amino-acid Alignments

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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.479A>G

p.Gln160Arg (Legacy AA No. 100)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CAG > CGG

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

56

Allele Frequency (MAF):

0.0001376

Molecular Graphics and Amino-acid Alignments

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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
13		<1		12	Homozygous	2	severe		Hunault et al 1999
253		0.6		11.5	Homozygous	1	severe		Kavlie et al 1998
201		1.8		10	Homozygous	1	severe		Kavlie et al 1998
198		6.5		17	Homozygous	1	severe		Kavlie et al 1998
195		1.9		18	Homozygous	1	severe		Kavlie et al 1998
298		2.1		11	Homozygous	1	severe		Kavlie et al 1998
202		6.4		26	Homozygous	1	severe		Kavlie et al 1998
199		2.9		13.5	Homozygous	1	severe		Kavlie et al 1998
196		1.6		20	Homozygous	1	severe		Kavlie et al 1998
307		2.3		17	Homozygous	1	severe		Kavlie et al 1998
304		2.2		23.5	Homozygous	1	severe		Kavlie et al 1998
193		2.4		17.5	Homozygous	1	severe		Kavlie et al 1998
287		2		28	Homozygous	1	severe		Kavlie et al 1998
224		4.5		14	Homozygous	1	severe		Kavlie et al 1998
200		1.4		13	Homozygous	1	severe		Kavlie et al 1998
197		2.3		20	Homozygous	1	severe		Kavlie et al 1998
194		1.3		10	Homozygous	1	severe		Kavlie et al 1998
305		2.2		14	Homozygous	1	severe		Kavlie et al 1998
189		<1		10	Homozygous	-	severe		Peyvandi et al 2000b
453	<1			10	Homozygous	-	Asymptomatic		Sabater-Lleal et al 2003
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
355		<1		64	Heterozygous	5	asymptomatic		Giansily-Blaizot et al 2001
352		<1			Heterozygous	5	severe		Giansily-Blaizot et al 2001
353					Heterozygous	1	unknown		Kavlie et al 1997
165					Heterozygous	1	unknown		Kavlie et al 1997
270		4	<1	60	Heterozygous	1	asymptomatic	FVII KANSAS	Kuppuswamy et al 1993
186		7		43	Heterozygous	3	unknown		Millar et al 2000
162		15		21	Heterozygous	2	moderate		Millar et al 2000
306		1		6	Heterozygous	3	unknown		Millar et al 2000
187		2		6	Heterozygous	3	severe		Millar et al 2000
164		15			Heterozygous	2	mild		Millar et al 2000
297		1		7	Heterozygous	3	severe		Millar et al 2000
188		35			Heterozygous	6	unknown		Wulff et al 2000
12			7	47	Heterozygous	-	asymptomatic	other allele is not determined	Takamiya et al 1993

c.479A>T

p.Gln160Leu (Legacy AA No. 100)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CTG > CAG

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
443	2_<6			not in the abstract	Heterozygous	1	Moderate		Jin et al 2012

c.485G>A

p.Cys162Tyr (Legacy AA No. 102)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

TGC > TAC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
360		2		19	Heterozygous	4	asymptomatic	other mutation unknown	Giansily-Blaizot et al 2001

c.487A>G

p.Ser163Gly (Legacy AA No. 103)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGT > AGT

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

4.27E-5

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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
819	<1			13	Homozygous	-	Severe		Pruthi et al 2007

c.508C>T

p.Arg170Cys (Legacy AA No. 110)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CGC > TGC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

8.5E-6

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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
285		25		28	Homozygous	2	asymptomatic		Suto et al 2000
751	<1			<1	Heterozygous	1	Mild		D'Andrea et al 2004
283		62		58	Heterozygous	-	asymptomatic		Suto et al 2000
284		73		79	Heterozygous	-	asymptomatic		Suto et al 2000

c.525C>T

p.His175= (Legacy AA No. 115)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CAC > CAT

Variant Effect:

Silent

Location:

Exon (6)

No of bases:

1

No. of patients reported:

59

Allele Frequency (MAF):

0.1419

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Silent) of the variant at Exon 6

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
204		<1		<1	Homozygous	4	severe		Carew et al 1998
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001
349		<1		47	Homozygous	4	mild		Giansily-Blaizot et al 2001
9		<1		2	Homozygous	3	mild		Hunault et al 1999
39			5.5		Homozygous	5	asymptomatic		Tamary et al 1996
36			14		Homozygous	5	asymptomatic		Tamary et al 1996
33			6		Homozygous	5	asymptomatic		Tamary et al 1996
30			9		Homozygous	5	asymptomatic		Tamary et al 1996
27			3.5		Homozygous	5	asymptomatic		Tamary et al 1996
37			4		Homozygous	5	asymptomatic		Tamary et al 1996
34			7	7	Homozygous	5	asymptomatic		Tamary et al 1996
31			5	9	Homozygous	5	asymptomatic		Tamary et al 1996
28			7		Homozygous	5	asymptomatic		Tamary et al 1996
38			5		Homozygous	5	asymptomatic		Tamary et al 1996
35			3	5	Homozygous	5	asymptomatic		Tamary et al 1996
32			4		Homozygous	5	asymptomatic		Tamary et al 1996
29			9.4		Homozygous	5	asymptomatic		Tamary et al 1996
57		6		61	Homozygous	6	unknown		Wulff et al 2000
102		3		4	Homozygous	6	unknown		Wulff et al 2000
87		<1		<1	Homozygous	7	unknown		Wulff et al 2000
345			38		Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
90			12	14	Heterozygous	3	asymptomatic	FVII MALTA I & II	Alshinawi et al 1998
392			45	57	Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
15			27	41	Heterozygous	2	unknown	FVII MALTA I	Alshinawi et al 1998
22		43		42	Homozygous	5	asymptomatic		Bernardi et al 1993
11		27		35	Homozygous	4	asymptomatic		Bernardi et al 1993
320		27		24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
383		52		56	Homozygous	4	unknown		Bernardi et al 1993
95		2		10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
359	2				Heterozygous	4	mild	other mutation unknown	Giansily-Blaizot et al 2001
134		3		23	Heterozygous	5	mild		Giansily-Blaizot et al 2001
153		2			Homozygous	7	mild	Female	Giansily-Blaizot et al 2001
347		2			Heterozygous	5	mild		Giansily-Blaizot et al 2001
225		<1			Heterozygous	7	severe		Giansily-Blaizot et al 2001
155		4		48	Homozygous	8	mild		Giansily-Blaizot et al 2001
344		3		10	Heterozygous	5	asymptomatic		Giansily-Blaizot et al 2001
19	37			30	Heterozygous	2	asymptomatic		Marchetti et al 1993
42			46		Homozygous	10	asymptomatic		Tamary et al 1996
49			25		Homozygous	5	asymptomatic		Tamary et al 1996
46			39		Heterozygous	14	asymptomatic		Tamary et al 1996
43			33		Heterozygous	5	asymptomatic		Tamary et al 1996
40			5		Homozygous	6	asymptomatic		Tamary et al 1996
47			28		Homozygous	10	asymptomatic		Tamary et al 1996
44			33		Heterozygous	5	asymptomatic		Tamary et al 1996
41			19		Heterozygous	10	asymptomatic		Tamary et al 1996
48			32		Homozygous	5	asymptomatic		Tamary et al 1996
45			31		Homozygous	5	asymptomatic		Tamary et al 1996
388	32				Homozygous	5	Severe	Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp	Unpublished Submission
414	29				Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission
415	30			16	Heterozygous	5	Mild	Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC	Unpublished Submission
410			23	24	Heterozygous	6	asymptomatic		Unpublished Submission
413	28				Heterozygous	5	Mild		Unpublished Submission
238	15			60	Heterozygous	6	asymptomatic		Wulff et al 2000
328	9			31	Homozygous	7	mild		Wulff et al 2000
243		18		74	Heterozygous	6	unknown	other lesion unknown	Wulff et al 2000
10		14-40			Homozygous	8	asymptomatic		Wulff et al 2000
318		27			Heterozygous	3	unknown		Wulff et al 2000
237		<1			Heterozygous	4	unknown	other lesion unknown	Wulff et al 2000

c.529G>A

p.Gly177Arg (Legacy AA No. 117)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

AGG > GGG

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
693	<1			UK	Homozygous	-	Mild		Jayandharan et al 2007

c.547G>T

p.Asp183Tyr (Legacy AA No. 123)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

TAC > GAC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
751	<1			<1	Heterozygous	1	Mild		D'Andrea et al 2004

c.550G>A

p.Gly184Arg (Legacy AA No. 124)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

AGG > GGG

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
485	31			32	Heterozygous	-	Mild		Qu_lin et al 2008

c.572-1G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (6)

No of bases:

1

No. of patients reported:

7

Allele Frequency (MAF):

8.3E-6

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 6

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
434	4.4			38.5	Heterozygous	1	Moderate		Yu et al 2009

c.572-12T>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 6

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
316	low				Homozygous	2	severe		Millar et al 2000

c.572-2A>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (6)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

1.66E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 6

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
314		72			Heterozygous	2	asymptomatic		Millar et al 2000

c.580C>A

p.Pro194Thr (Legacy AA No. 134)

Variant Type:

Point

Domain:

Activation Peptide

Sequence Context:

CCA > ACA

Variant Effect:

Missense

Location:

Exon (7)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
513	UK			UK	Homozygous	-	Asymptomatic		Herrmann et al 2009
90			12	14	Heterozygous	3	asymptomatic	FVII MALTA I & II	Alshinawi et al 1998
15			27	41	Heterozygous	2	unknown	FVII MALTA I	Alshinawi et al 1998
16			46	73	Heterozygous	2	unknown	FVII MALTA I	Alshinawi et al 1998

c.583T>C

p.Cys195Arg (Legacy AA No. 135)

Variant Type:

Point

Domain:

Activation Peptide

Sequence Context:

TGT > CGT

Variant Effect:

Missense

Location:

Exon (7)

No of bases:

1

No. of patients reported:

14

Allele Frequency (MAF):

8.3E-6

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
255		1	24	Homozygous	2	unknown	Millar et al 2000
312	1 to 4		2	Homozygous	5	unknown	Wulff et al 2000
370	2		7	Heterozygous	5	severe	Giansily-Blaizot et al 2001
455		<1	7	Heterozygous	1	Severe	Giansily-Blaizot et al 2001
132		5	55	Heterozygous	6	asymptomatic	Giansily-Blaizot et al 2001
187		2	6	Heterozygous	3	severe	Millar et al 2000
313		<1	<1	Heterozygous	1	severe	Peyvandi et al 2000b

c.589A>G

p.Lys197Glu (Legacy AA No. 137)

Variant Type:

Point

Domain:

Activation Peptide

Sequence Context:

AAA > GAA

Variant Effect:

Missense

Location:

Exon (7)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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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
17			<1	18	Heterozygous	-	asymptomatic	other allele is not determined	Takamiya et al 1993

c.593T>C

p.Ile198Thr (Legacy AA No. 138)

Variant Type:

Point

Domain:

Activation Peptide

Sequence Context:

ACA > ATA

Variant Effect:

Missense

Location:

Exon (7)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

8.3E-6

Molecular Graphics and Amino-acid Alignments

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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
704	4			5.5	Heterozygous	1	Asymptomatic		Mota et al 2009

c.599T>G

p.Ile200Ser (Legacy AA No. 140)

Variant Type:

Point

Domain:

Activation Peptide

Sequence Context:

AGT > ATT

Variant Effect:

Missense

Location:

Exon (7)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

0.0004889

Molecular Graphics and Amino-acid Alignments

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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
424		62	62	65	Heterozygous	-	Unknown		Rodrigues et al 2003

c.634C>T

p.Arg212* (Legacy AA No. 152)

Variant Type:

Point

Domain:

Activation Peptide

Sequence Context:

CGA > TGA

Variant Effect:

Nonsense

Location:

Exon (7)

No of bases:

1

No. of patients reported:

11

Allele Frequency (MAF):

1.66E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 7

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: 221 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR