Factor VII Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Search Results: 16 unique variants retrieved

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:

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
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:

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
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:

No. of patients reported:

Allele Frequency (MAF):

8.8E-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(%)	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:

No. of patients reported:

Allele Frequency (MAF):

3.49E-5

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
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:

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
9		<1	2	Homozygous	3	mild		Hunault et al 1999
95		2	10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
383		52	56	Heterozygous	4	unknown		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:

No. of patients reported:

Allele Frequency (MAF):

2.61E-5

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
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:

No. of patients reported:

Allele Frequency (MAF):

8.7E-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.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:

No. of patients reported:

Allele Frequency (MAF):

0.0001376

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
13		<1		12	Homozygous	2	severe		Hunault et al 1999
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
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
193		2.4		17.5	Homozygous	1	severe		Kavlie et al 1998
304		2.2		23.5	Homozygous	1	severe		Kavlie et al 1998
287		2		28	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
352		<1			Heterozygous	5	severe		Giansily-Blaizot et al 2001
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
355		<1		64	Heterozygous	5	asymptomatic		Giansily-Blaizot et al 2001
165					Heterozygous	1	unknown		Kavlie et al 1997
353					Heterozygous	1	unknown		Kavlie et al 1997
270		4	<1	60	Heterozygous	1	asymptomatic	FVII KANSAS	Kuppuswamy et al 1993
297		1		7	Heterozygous	3	severe		Millar et al 2000
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
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:

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
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:

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
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:

No. of patients reported:

Allele Frequency (MAF):

4.27E-5

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
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:

No. of patients reported:

Allele Frequency (MAF):

8.5E-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
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
284		73		79	Heterozygous	-	asymptomatic		Suto et al 2000
283		62		58	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:

No. of patients reported:

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
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
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
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
90			12	14	Heterozygous	3	asymptomatic	FVII MALTA I & II	Alshinawi et al 1998
345			38		Heterozygous	2	unknown	FVII MALTA 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
95		2		10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
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
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
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
19	37			30	Heterozygous	2	asymptomatic		Marchetti et al 1993
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
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
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
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
238	15			60	Heterozygous	6	asymptomatic		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:

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
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:

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
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:

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
485	31			32	Heterozygous	-	Mild		Qu_lin et al 2008

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: 16 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

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