Factor VII Variant Database

c.1123C>T

p.Arg375Trp (Legacy AA No. 315)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGG > CGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

0.0003057

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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
750	26			67	Heterozygous	1	Asymptomatic		Furlan Freguia et al 2004

c.1151C>T

p.Thr384Met (Legacy AA No. 324)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ATG > ACG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

0.0001102

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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
702	13			36	Homozygous	-	Asymptomatic		Mota et al 2009

c.1159A>G

p.Met387Val (Legacy AA No. 327)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GTG > ATG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
585	30_<50			UK	Heterozygous	-	Moderate		Herrmann et al 2009

c.1159_1176del

p.Met387_Tyr392del (Legacy AA No. 327)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Inframe

Location:

Exon (9)

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 | Inframe) of the variant at Exon 9

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
806		0,4		21	Homozygous	-	Severe		Gomez et al 2004

c.1161G>T

p.Met387Ile (Legacy AA No. 327)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ATG > ATT

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
349		<1		47	Homozygous	4	mild		Giansily-Blaizot et al 2001

c.1163T>G

p.Phe388Cys (Legacy AA No. 328)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGC > TTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
449		5	5	UK	Heterozygous	1	Mild		Liu et al 2015

c.1163T>C

p.Phe388Ser (Legacy AA No. 328)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > TCC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

1.69E-5

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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
350		<1		38	Homozygous	-	severe	FVII CENTRAL	Bharadwaj et al 1996
518	1			UK	Homozygous	-	Mild		Herrmann et al 2009
161		<1		65	Heterozygous	5	severe		Giansily-Blaizot et al 2001

c.1163T>A

p.Phe388Tyr (Legacy AA No. 328)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TAC > TTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
801	23			UK	Heterozygous	-	Moderate		Elmahmoudi et al 2012

c.1165T>C

p.Cys389Arg (Legacy AA No. 329)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGT > CGT

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

8.5E-6

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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
340	12 to 15			49.5	Heterozygous	-	unknown		James et al 1997

c.1165T>G

p.Cys389Gly (Legacy AA No. 329)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGT > GGT

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

14

Allele Frequency (MAF):

4.23E-5

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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
342	3			55	Homozygous	-	mild		Wu et al 2000
334	2			49	Heterozygous	1	moderate		Au et al 2000
175		1		19	Heterozygous	2	severe		Millar et al 2000
251		1.2		30.4	Heterozygous	1	mild-moderate		Shen et al 2001
434	4.4			38.5	Heterozygous	1	Moderate		Yu et al 2009

c.1171G>T

p.Gly391Cys (Legacy AA No. 331)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGC > GGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
519	1			UK	Homozygous	-	Mild		Herrmann et al 2009

c.1171G>A

p.Gly391Ser (Legacy AA No. 331)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGC > AGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

13

Allele Frequency (MAF):

2.54E-5

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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
355		<1		64	Heterozygous	5	asymptomatic		Giansily-Blaizot et al 2001
396			7	41	Heterozygous	1	moderate	other allele is not determined	Marchetti et al 1992
335		30		64	Heterozygous	2	moderate		Millar et al 2000
454	3			UK	Heterozygous	1	Asymptomatic		Sabater-Lleal et al 2003

c.1172G>A

p.Gly391Asp (Legacy AA No. 331)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGC > GAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

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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
425		36	36	90	Heterozygous	-	Asymptomatic	Rodrigues et al 2003
80	46 (bovine)	85	23	77	Heterozygous	-	asymptomatic	Zheng et al 1996

c.1179G>A

p.Ser393= (Legacy AA No. 333)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TCG > TCA

Variant Effect:

Silent

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

5.08E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Silent) of the variant at Exon 9

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
22		43		42	Heterozygous	5	asymptomatic		Bernardi et al 1993

c.1194C>G

p.Asp398Glu (Legacy AA No. 338)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAG > GAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
700	<1			95	Homozygous	-	Mild		Mota et al 2009

c.1196C>G

p.Ser399Cys (Legacy AA No. 339)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TCC > TGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

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Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
404		34	40	Heterozygous	2	asymptomatic	Takamiya et al 1995
759	34		40	Heterozygous	-	Asymptomatic	Takamiya et al 2002

c.1196C>T

p.Ser399Phe (Legacy AA No. 339)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > TCC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

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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
797	1.5			UK	Homozygous	-	Severe		Fromovich-Amit et al 2005

c.1204G>A

p.Gly402Arg (Legacy AA No. 342)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > AGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

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Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
81		45	73	Heterozygous	3	unknown	Bernardi et al 1994a
144		35	64	Heterozygous	3	asymptomatic	Bernardi et al 1994a

c.1205G>A

p.Gly402Glu (Legacy AA No. 342)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > GAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

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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
146		55		101	Heterozygous	3	asymptomatic		Bernardi et al 1996
82		42		85	Heterozygous	3	asymptomatic		Bernardi et al 1996
83		48		108	Heterozygous	3	asymptomatic		Bernardi et al 1996
145		39		104	Heterozygous	3	asymptomatic		Bernardi et al 1996

c.1207G>A

p.Asp403Asn (Legacy AA No. 343)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAC > AAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
161		<1		65	Heterozygous	5	severe		Giansily-Blaizot et al 2001

c.1207G>C

p.Asp403His (Legacy AA No. 343)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAC > CAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
243		18		74	Heterozygous	6	unknown	other lesion unknown	Wulff et al 2000

c.1223A>G

p.His408Arg (Legacy AA No. 348)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CAT > CGT

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

6

Allele Frequency (MAF):

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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
477		2		5	Homozygous	-	Moderate		Borhany et al 2013
210	<1?			43	Homozygous	-	mild		Tidd et al 1999
209	<1?			<3	Heterozygous	1	mild		Tidd et al 1999
211	<1?			<3	Heterozygous	1	mild		Tidd et al 1999

c.1224T>G

p.His408Gln (Legacy AA No. 348)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CAT > CAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

13

Allele Frequency (MAF):

2.57E-5

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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
250	2			2	Homozygous	5	severe		Giansily-Blaizot et al 2001
339			5.2	<12	Homozygous	2	severe		Katsumi et al 2000
377		3.4		5.9	Homozygous	-	mild-moderate		Shen et al 2001
428	UK			UK	Heterozygous	1	Unknown		Chu et al 2002
408			1.2	21	Heterozygous	5	asymptomatic		Unpublished Submission
410			23	24	Heterozygous	6	asymptomatic		Unpublished Submission

c.1228A>G

p.Thr410Ala (Legacy AA No. 350)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCC > ACC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
481		2		UK	Homozygous	-	Severe		Borhany et al 2013

c.1237C>G

p.Arg413Gly (Legacy AA No. 353)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > CGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

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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
586	30_<50			UK	Heterozygous	-		Haemorrhages and Thrombosis	Herrmann et al 2009

c.1238G>A

p.Arg413Gln (Legacy AA No. 353)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > CAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

110

Allele Frequency (MAF):

0.1341

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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
60		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
110		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
105		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
118		5	11	47	Homozygous	1	moderate		Arbini et al 1994
58		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
108		<2	<2	4	Homozygous	2	moderate		Arbini et al 1994
103		<2	<2	3	Homozygous	2	severe		Arbini et al 1994
59		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
104		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
204		<1		<1	Homozygous	4	severe		Carew et al 1998
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001
9		<1		2	Homozygous	3	mild		Hunault et al 1999
296		1		19	Homozygous	2	severe		Millar et al 2000
240					Heterozygous	2	unknown		Millar et al 2000
50		2		4	Homozygous	2	asymptomatic		Millar et al 2000
303		1		4	Homozygous	2	unknown		Millar et al 2000
51		9		10	Homozygous	2	asymptomatic		Millar et al 2000
239		1		9	Homozygous	2	severe		Millar et al 2000
316	low				Homozygous	2	severe		Millar et al 2000
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
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
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
113		38	27	34	Heterozygous	2	asymptomatic		Arbini et al 1994
230		73	75	82	Heterozygous	1	asymptomatic		Arbini et al 1994
111		40	44	45	Heterozygous	2	asymptomatic		Arbini et al 1994
112		52	44	43	Heterozygous	2	mild		Arbini et al 1994
171		45	30	50	Homozygous	1	asymptomatic		Arbini et al 1994
369		<1		<1	Heterozygous	2	severe		Arbini et al 1996
22		43		42	Homozygous	5	asymptomatic		Bernardi et al 1993
383		52		56	Homozygous	4	unknown		Bernardi et al 1993
320		27		24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
11		27		35	Homozygous	4	asymptomatic		Bernardi et al 1993
95		2		10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
144		35		64	Heterozygous	3	asymptomatic		Bernardi et al 1994a
128		33		70	Heterozygous	3	asymptomatic		Bernardi et al 1994a
254		44		40	Heterozygous	3	unknown		Bernardi et al 1994b
381		59		98	Heterozygous	3	unknown		Bernardi et al 1994b
101		7		25	Heterozygous	4	unknown		Bernardi et al 1994b
83		48		108	Heterozygous	3	asymptomatic		Bernardi et al 1996
145		39		104	Heterozygous	3	asymptomatic		Bernardi et al 1996
98		60		50	Heterozygous	3	unknown		Bernardi et al 1996
61		50		87	Heterozygous	3	asymptomatic		Bernardi et al 1996
99		44		49	Heterozygous	3	asymptomatic		Bernardi et al 1996
229		42		46	Heterozygous	3	asymptomatic		Bernardi et al 1996
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
359	2				Heterozygous	4	mild	other mutation unknown	Giansily-Blaizot et al 2001
344		3		10	Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
153		2			Homozygous	7	mild	Female	Giansily-Blaizot et al 2001
134		3		23	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
347		2			Heterozygous	5	mild		Giansily-Blaizot et al 2001
109	28				Homozygous	1	unknown		Herrmann et al 1997
19	37			30	Heterozygous	2	asymptomatic		Marchetti et al 1993
290		33		21	Homozygous	2	asymptomatic		Millar et al 2000
173		1		9	Heterozygous	3	severe		Millar et al 2000
162		15		21	Heterozygous	2	moderate		Millar et al 2000
294		2		7	Homozygous	3	severe		Millar et al 2000
175		1		19	Heterozygous	2	severe		Millar et al 2000
164		15			Heterozygous	2	mild		Millar et al 2000
281		45			Homozygous	2	mild		Millar et al 2000
120		25			Heterozygous	2	unknown		Millar et al 2000
295		28		34	Homozygous	2	asymptomatic		Millar et al 2000
20		21		25	Heterozygous	2	mild		Millar et al 2000
62		50			Heterozygous	2	mild		Millar et al 2000
186		7		43	Homozygous	3	unknown		Millar et al 2000
288		23		38	Heterozygous	2	asymptomatic		Millar et al 2000
246		4		1	Homozygous	3	mild		Millar et al 2000
7		3			Heterozygous	3	asymptomatic		Millar et al 2000
335		30		64	Heterozygous	2	moderate		Millar et al 2000
302		10	10	52	Heterozygous	3	asymptomatic		Takamiya et al 1993
42			46		Heterozygous	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
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
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
10		14-40			Homozygous	8	asymptomatic		Wulff et al 2000
243		18		74	Heterozygous	6	unknown	other lesion unknown	Wulff et al 2000
328	9			31	Homozygous	7	mild		Wulff et al 2000
237		<1			Heterozygous	4	unknown	other lesion unknown	Wulff et al 2000

c.1238G>C

p.Arg413Pro (Legacy AA No. 353)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCG > CGG

Variant Effect:

Missense

Location:

Exon (9)

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
433			2	10	Heterozygous	1	Mild		Zhidong et al 2007

c.1240G>T

p.Gly414Cys (Legacy AA No. 354)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGC > GGC

Variant Effect:

Missense

Location:

Exon (9)

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
760	5			7.3	Homozygous	-	Mild		Takamiya et al 2004

c.1246delT

p.Trp416Glyfs*3 (Legacy AA No. 356)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delT

Variant Effect:

Frameshift

Location:

Exon (9)

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 (Deletion | Frameshift) of the variant at Exon 9

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
306		1		6	Heterozygous	3	unknown		Millar et al 2000

c.1247G>A

p.Trp416* (Legacy AA No. 356)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGG > TAG

Variant Effect:

Nonsense

Location:

Exon (9)

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 | Nonsense) of the variant at Exon 9

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
85		7		41	Heterozygous	4	moderate		Bernardi et al 1994a
147		48		48	Heterozygous	3	asymptomatic		Bernardi et al 1994a
84		50		48	Heterozygous	3	unknown		Bernardi et al 1994a

c.1256C>T

p.Thr419Met (Legacy AA No. 359)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ACG > ATG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

20

Allele Frequency (MAF):

1.7E-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
174	1			2	Homozygous	5	severe		Giansily-Blaizot et al 2001
412		1.6	0.8	2	Homozygous	2	mild	FVII TOYAMA	Ozawa et al 1997
233		<1		<1	Homozygous	-	mild		Peyvandi et al 2000b
375			<1		Homozygous	2	severe		Unpublished Submission
274			<1	2	Homozygous	3	severe		Unpublished Submission
369		<1		<1	Heterozygous	2	severe		Arbini et al 1996
428	UK			UK	Heterozygous	1	Unknown		Chu et al 2002
86		02-Apr			Heterozygous	7	unknown		Wulff et al 2000

c.1264G>T

p.Val422Phe (Legacy AA No. 362)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > GTC

Variant Effect:

Missense

Location:

Exon (9)

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
745	3			58	Heterozygous	1		Haemorrhages and Thrombosis	Mariani et al 2003

c.1268G>T

p.Ser423Ile (Legacy AA No. 363)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

AGC > ATC

Variant Effect:

Missense

Location:

Exon (9)

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
730	<1			130	Homozygous	-	Mild		Peyvandi et al 2000
276		<1		130	Homozygous	-	mild		Peyvandi et al 2000b
275		<1		80	Homozygous	-	mild		Peyvandi et al 2000b

c.1271_1272del2insTT

p.Trp424Phe (Legacy AA No. 364)

Variant Type:

Indel

Domain:

Serine Protease

Sequence Context:

TGG > TTT

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

2

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
278		6		77	Homozygous	-	severe		Peyvandi et al 2000b

c.1272G>A

p.Trp424* (Legacy AA No. 364)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGG > TGA

Variant Effect:

Nonsense

Location:

Exon (9)

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 9

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
277	5				Heterozygous	5	mild		Giansily-Blaizot et al 2001

c.1272G>C

p.Trp424Cys (Legacy AA No. 364)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGG > TGC

Variant Effect:

Missense

Location:

Exon (9)

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(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
691	<1		UK	Homozygous	1	Mild	Jayandharan et al 2007
358		<1	132	Homozygous	-	severe	Peyvandi et al 2000b

c.1273G>T

p.Gly425Cys (Legacy AA No. 365)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGC > GGC

Variant Effect:

Missense

Location:

Exon (9)

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
564	6			UK	Heterozygous	1	Severe		Herrmann et al 2009

c.1285G>A

p.Ala429Thr (Legacy AA No. 369)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ACA > GCA

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

5.09E-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
TF-Unknown	TF-Human	TF-Rabbit
456	5			7	Heterozygous	1	Asymptomatic		Giansily-Blaizot et al 2001

c.1304G>A

p.Gly435Glu (Legacy AA No. 375)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > GAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

8

Allele Frequency (MAF):

4.24E-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
521	2			45	Homozygous	-	Severe		Herrmann et al 2009
353					Heterozygous	1	unknown		Kavlie et al 1997
173		1		9	Heterozygous	3	severe		Millar et al 2000

c.1315A>G

p.Arg439Gly (Legacy AA No. 379)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

AGG > GGG

Variant Effect:

Missense

Location:

Exon (9)

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
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001

c.1324C>T

p.Gln442* (Legacy AA No. 382)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TAG > CAG

Variant Effect:

Nonsense

Location:

Exon (9)

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 9

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
688	<1			UK	Homozygous	-	Severe		Jayandharan et al 2007

c.1333G>A

p.Glu445Lys (Legacy AA No. 385)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

AAG > GAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

0.0003505

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
808		35	35	UK	Heterozygous	-	Mild		Cutler et al 2005

c.1384C>T

p.Arg462* (Legacy AA No. 402)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGA > CGA

Variant Effect:

Nonsense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

2.68E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 9

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
459	2			UK	Homozygous	-	Asymptomatic		Branchini et al 2012

c.1391delC

p.Pro464Hisfs*32 (Legacy AA No. 404)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delC

Variant Effect:

Frameshift

Location:

Exon (9)

No of bases:

1

No. of patients reported:

59

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

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: 94 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

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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

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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

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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

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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

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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