Factor VII Variant Database

c.-402A>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (5')

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

0.2326

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 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
410			23	24	Heterozygous	6	asymptomatic		Unpublished Submission

c.-401G>T

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (5')

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

0.2041

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 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
410			23	24	Heterozygous	6	asymptomatic		Unpublished Submission

c.-325_-324insCCTATATCCT

(Legacy AA No. 0)

Variant Type:

Insertion

Domain:

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (5')

No of bases:

10

No. of patients reported:

77

Allele Frequency (MAF):

0.23

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Promoter) of the variant at Flanking 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
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001
9		<1		2	Homozygous	3	mild		Hunault et al 1999
51		9		10	Heterozygous	2	asymptomatic		Millar et al 2000
239		1		9	Homozygous	2	severe		Millar et al 2000
303		1		4	Homozygous	2	unknown		Millar et al 2000
240					Heterozygous	2	unknown		Millar et al 2000
316	low				Heterozygous	2	severe		Millar et al 2000
50		2		4	Homozygous	2	asymptomatic		Millar et al 2000
296		1		19	Homozygous	2	severe		Millar et al 2000
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
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
102		3		4	Homozygous	6	unknown		Wulff et al 2000
320		27		24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
383		52		56	Homozygous	4	unknown		Bernardi et al 1993
22		43		42	Heterozygous	5	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
99		44		49	Heterozygous	3	asymptomatic		Bernardi et al 1996
83		48		108	Heterozygous	3	asymptomatic		Bernardi et al 1996
61		50		87	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
229		42		46	Heterozygous	3	asymptomatic		Bernardi et al 1996
344		3		10	Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
359	2				Heterozygous	4	mild	other mutation unknown	Giansily-Blaizot et al 2001
347		2			Homozygous	5	mild		Giansily-Blaizot et al 2001
360		2		19	Heterozygous	4	asymptomatic	other mutation unknown	Giansily-Blaizot et al 2001
355		<1		64	Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
155		4		48	Homozygous	8	mild		Giansily-Blaizot et al 2001
371	<1			25	Heterozygous	6	severe		Giansily-Blaizot et al 2001
134		3		23	Heterozygous	5	mild		Giansily-Blaizot et al 2001
357	2			15	Heterozygous	5	mild		Giansily-Blaizot et al 2001
20		21		25	Heterozygous	2	mild		Millar et al 2000
7		3			Heterozygous	3	asymptomatic		Millar et al 2000
175		1		19	Heterozygous	2	severe		Millar et al 2000
290		33		21	Heterozygous	2	asymptomatic		Millar et al 2000
162		15		21	Heterozygous	2	moderate		Millar et al 2000
281		45			Homozygous	2	mild		Millar et al 2000
246		4		1	Homozygous	3	mild		Millar et al 2000
187		2		6	Heterozygous	3	severe		Millar et al 2000
295		28		34	Homozygous	2	asymptomatic		Millar et al 2000
164		15			Heterozygous	2	mild		Millar et al 2000
335		30		64	Heterozygous	2	moderate		Millar et al 2000
62		50			Heterozygous	2	mild		Millar et al 2000
173		1		9	Heterozygous	3	severe		Millar et al 2000
288		23		38	Heterozygous	2	asymptomatic		Millar et al 2000
282		<1		<1	Heterozygous	2	severe		Shen et al 2001
251		1.2		30.4	Heterozygous	1	mild-moderate		Shen et al 2001
302		10	10	52	Heterozygous	3	asymptomatic		Takamiya et al 1993
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		Heterozygous	5	asymptomatic		Tamary et al 1996
46			39		Heterozygous	14	asymptomatic		Tamary et al 1996
43			33		Homozygous	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		Homozygous	5	asymptomatic		Tamary et al 1996
410			23	24	Heterozygous	6	asymptomatic		Unpublished Submission
243		18		74	Heterozygous	6	unknown	other lesion unknown	Wulff et al 2000
238	15			60	Heterozygous	6	asymptomatic		Wulff et al 2000
328	9			31	Homozygous	7	mild		Wulff et al 2000
10		14-40			Homozygous	8	asymptomatic		Wulff et al 2000

c.-122T>C

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (5')

No of bases:

1

No. of patients reported:

5

Allele Frequency (MAF):

0.1436

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'

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
102		3		4	Homozygous	6	unknown		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
328	9			31	Homozygous	7	mild		Wulff et al 2000
238	15			60	Heterozygous	6	asymptomatic		Wulff et al 2000

c.-96C>T

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (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 | Promoter) of the variant at Flanking 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
329			<1	6	Heterozygous	5	mild		Unpublished Submission

c.-94C>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (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 | Promoter) of the variant at Flanking 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
204		<1		<1	Homozygous	4	severe		Carew et al 1998

c.-65G>C

(Legacy AA No. 0)

Variant Type:

Point

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (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 | Promoter) of the variant at Flanking 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
486			<1%	<1%	Homozygous	-	severe		Giansily-Blaizot et al 2012

c.-61T>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (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 | Promoter) of the variant at Flanking 5'

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
378	<1		<1	Homozygous	1	severe	Arbini et al 1997
208		2		Heterozygous	6	severe	Giansily-Blaizot et al 2001

c.-60_-59delTT

(Legacy AA No. 0)

Variant Type:

Deletion

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (5')

No of bases:

2

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Promoter) of the variant at Flanking 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
487			7% (afte PFC infusion)	6% (after PFC infusion)	Homozygous	-	severe		Giansily-Blaizot et al 2012

c.-60T>C

(Legacy AA No. 0)

Variant Type:

Point

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (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 | Promoter) of the variant at Flanking 5'

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
209	<1?		<3	Heterozygous	1	mild	Tidd et al 1999
211	<1?		<3	Heterozygous	1	mild	Tidd et al 1999

c.-59T>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (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 | Promoter) of the variant at Flanking 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
784			8%	24%	Heterozygous	1	moderate		Kavlie et al 2003

c.-55C>T

(Legacy AA No. 0)

Variant Type:

Point

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

Flanking (5')

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'

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
204		<1		<1	Homozygous	4	severe		Carew et al 1998
379		<1		<1	Heterozygous	2	severe		Carew et al 1998
208		2			Heterozygous	6	severe		Giansily-Blaizot et al 2001
778			34	UK	Heterozygous	-	Asymptomatic		Kwon et al 2011

c.-32A>C

(Legacy AA No. 0)

Variant Type:

Point

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

UTR (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 | Promoter) of the variant at UTR 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
785			2%	<1	Homozygous	-	moderate		Kavlie et al 2003

c.-30A>C

(Legacy AA No. 0)

Variant Type:

Point

Domain:

promoter

Sequence Context:

Variant Effect:

Promoter

Location:

UTR (5')

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 | Promoter) of the variant at UTR 5'

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
289		16		20	Homozygous	2	asymptomatic		Millar et al 2000
288		23		38	Heterozygous	2	asymptomatic		Millar et al 2000
290		33		21	Heterozygous	2	asymptomatic		Millar et al 2000

c.(?_-1)_(*1_?)

large del (Legacy AA No. -60)

Variant Type:

Deletion

Domain:

Signal Peptide

Sequence Context:

Variant Effect:

Frameshift

Location:

Exon (1)

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 1

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
426	0_<2			UK	Heterozygous	1	Severe		Hewitt et al 2005

c.1A>G

p.Met1Val (Legacy AA No. -60)

Variant Type:

Point

Domain:

Signal Peptide

Sequence Context:

ATG > GTG

Variant Effect:

Missense

Location:

Exon (1)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

7.89E-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
359	2				Heterozygous	4	mild	other mutation unknown	Giansily-Blaizot et al 2001

c.3G>C

p.Met1Ile (Legacy AA No. -60)

Variant Type:

Point

Domain:

Signal Peptide

Sequence Context:

ATG > ATC

Variant Effect:

Missense

Location:

Exon (1)

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
236	1			1	Heterozygous	3	asymptomatic		Millar et al 2000

c.10C>T

p.Gln4* (Legacy AA No. -57)

Variant Type:

Point

Domain:

Signal Peptide

Sequence Context:

CAG > TAG

Variant Effect:

Nonsense

Location:

Exon (1)

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 1

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
499	10		UK	Heterozygous	2	Mild	Herrmann et al 2000
213		08-Dec		Heterozygous	8	unknown	Wulff et al 2000

c.16delC

p.Leu6Serfs*41 (Legacy AA No. -55)

Variant Type:

Deletion

Domain:

Signal Peptide

Sequence Context:

Variant Effect:

Frameshift

Location:

Exon (1)

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 (Deletion | Frameshift) of the variant at Exon 1

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
685	<1			UK	Homozygous	-	Moderate		Jayandharan et al 2007

c.27_28delCT

p.Cys10Profs*16 (Legacy AA No. -51)

Variant Type:

Deletion

Domain:

Signal Peptide

Sequence Context:

delCT

Variant Effect:

Frameshift

Location:

Exon (1)

No of bases:

2

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
440	2_<6		not in the abstract	Homozygous	-	Mild		Jin et al 2012
338		0	<0.1	Homozygous	-	severe	Complete absence of circulating FVII. Both parents are heterozygous for the mutation	Peyvandi et al 2000a

c.27_28delCT

p.Cys10Profs*16 (Legacy AA No. -51)

Variant Type:

Deletion

Domain:

Signal Peptide

Sequence Context:

delCT

Variant Effect:

Frameshift

Location:

Exon (1)

No of bases:

2

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
440	2_<6		not in the abstract	Homozygous	-	Mild		Jin et al 2012
338		0	<0.1	Homozygous	-	severe	Complete absence of circulating FVII. Both parents are heterozygous for the mutation	Peyvandi et al 2000a

c.35T>C

p.Leu12Pro (Legacy AA No. -49)

Variant Type:

Point

Domain:

Signal Peptide

Sequence Context:

CCG > CTG

Variant Effect:

Missense

Location:

Exon (1)

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
764	12.5	14.5	14.5		Heterozygous	1	Unknown		Kogiso et al 2011

c.38T>C

p.Leu13Pro (Legacy AA No. -48)

Variant Type:

Point

Domain:

Signal Peptide

Sequence Context:

CTT > CCT

Variant Effect:

Missense

Location:

Exon (1)

No of bases:

1

No. of patients reported:

3

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
203		10.7	11	Homozygous	2	asymptomatic	FVII Morioka	Ozawa et al 1998
752	11		11	Homozygous	-	Unknown		Rizzotto et al 2006

c.56T>C

p.Leu19Pro (Legacy AA No. -42)

Variant Type:

Point

Domain:

Signal Peptide

Sequence Context:

CTG > CCG

Variant Effect:

Missense

Location:

Exon (1)

No of bases:

1

No. of patients reported:

3

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
498	11		UK	Heterozygous	1	Asymptomatic	Herrmann et al 2000
214		11		Heterozygous	8	asymptomatic	Wulff et al 2000

c.64+5G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (1)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 1

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
386		6		3	Homozygous	-	mild		Peyvandi et al 2000b
431		8.2		34.1	Heterozygous	1	Mild		Ding et al 2005
387	2			62	Heterozygous	6	mild		Giansily-Blaizot et al 2001

c.64G>A

p.Gly22Ser (Legacy AA No. -39)

Variant Type:

Point

Domain:

Propeptide

Sequence Context:

GGC > AGC

Variant Effect:

Missense

Location:

Exon (1)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

4.49E-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(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
215		8			Homozygous	6	unknown	Wulff et al 2000
769			6	UK	Heterozygous	1	Asymptomatic	Kwon et al 2011

c.65-3C>T

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (1)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

0.001518

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 1

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.66C>T

p.Gly22Gly (Legacy AA No. -38)

Variant Type:

Point

Domain:

Propeptide

Sequence Context:

GGT > GGC

Variant Effect:

Missense

Location:

Exon (1)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

0.0005191

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
805	UK			UK	Heterozygous	-	Mild		Elmahmoudi et al 2012

c.64+9G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (1)

No of bases:

1

No. of patients reported:

7

Allele Frequency (MAF):

0.2096

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 1

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
102		3		4	Homozygous	6	unknown		Wulff et al 2000
238	15			60	Heterozygous	6	asymptomatic		Wulff et al 2000
10		14-40			Homozygous	8	asymptomatic		Wulff et al 2000
243		18		74	Heterozygous	6	unknown	other lesion unknown	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
328	9			31	Homozygous	7	mild		Wulff et al 2000

c.130G>A

p.Val44Ile (Legacy AA No. -16)

Variant Type:

Point

Domain:

Propeptide

Sequence Context:

ATC > GTC

Variant Effect:

Missense

Location:

Exon (2)

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
494	4			UK	Homozygous	-	Unknown		Herrmann et al 2000

c.131-11G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (1)

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 1

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
363		<1		17	Heterozygous	5	mild		Giansily-Blaizot et al 2001

c.152C>A

p.Ala51Asp (Legacy AA No. -9)

Variant Type:

Point

Domain:

Propeptide

Sequence Context:

GAC > GCC

Variant Effect:

Missense

Location:

Exon (3)

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
583	10_<20			UK	Heterozygous	-	Mild		Herrmann et al 2009

c.158dup

p.Val54Argfs*53 (Legacy AA No. -6)

Variant Type:

Duplication

Domain:

Propeptide

Sequence Context:

Variant Effect:

Frameshift

Location:

Exon (3)

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 (Duplication | 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
770			1,3	UK	Heterozygous	1	Moderate		Kwon et al 2011

c.160G>A

p.Val54Ile (Legacy AA No. -6)

Variant Type:

Point

Domain:

Propeptide

Sequence Context:

ATC > GTC

Variant Effect:

Missense

Location:

Exon (3)

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
577	1			UK	Heterozygous	1	Severe		Herrmann et al 2009

c.175_180dupCGGCGC

p.Arg59_Arg60dup ArgArg (Legacy AA No. 400)

Variant Type:

Duplication

Domain:

Propeptide

Sequence Context:

Variant Effect:

Inframe

Location:

Exon (3)

No of bases:

6

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Inframe) 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
771			19	UK	Heterozygous	1	Asymptomatic		Kwon et al 2011

c.178C>T

p.Arg60Cys (Legacy AA No. -1)

Variant Type:

Point

Domain:

Propeptide

Sequence Context:

TGC > CGG

Variant Effect:

Missense

Location:

Exon (3)

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
686	21			UK	Homozygous	-	Mild		Jayandharan et al 2007

c.178C>G

p.Arg60Gly (Legacy AA No. -1)

Variant Type:

Point

Domain:

Propeptide

Sequence Context:

GGC > CGC

Variant Effect:

Missense

Location:

Exon (3)

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
814		15	15	UK	Heterozygous	-	Asymptomatic		Davidson et al 2010

c.190T>C

p.Phe64Leu (Legacy AA No. 4)

Variant Type:

Point

Domain:

Gla

Sequence Context:

TTC > CTC

Variant Effect:

Missense

Location:

Exon (3)

No of bases:

1

No. of patients reported:

2

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
495	<1		2	Homozygous	-	Moderate	Herrmann et al 2000
216		<1		Homozygous	6	unknown	Wulff et al 2000

c.218T>A

p.Leu73Gln (Legacy AA No. 13)

Variant Type:

Point

Domain:

Gla

Sequence Context:

CTG > CAG

Variant Effect:

Missense

Location:

Exon (3)

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
153		2			Heterozygous	7	mild	Female	Giansily-Blaizot et al 2001
568	<1			UK	Heterozygous	2	Severe		Herrmann et al 2009
294		2		7	Heterozygous	3	severe		Millar et al 2000
388	32				Heterozygous	5	Severe	Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp	Unpublished Submission

c.226G>A

p.Glu76Lys (Legacy AA No. 16)

Variant Type:

Point

Domain:

Gla

Sequence Context:

GAG > AAG

Variant Effect:

Missense

Location:

Exon (3)

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

c.235G>C

p.Glu79Gln (Legacy AA No. 19)

Variant Type:

Point

Domain:

Gla

Sequence Context:

GAG > CAG

Variant Effect:

Missense

Location:

Exon (3)

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
295		28		34	Heterozygous	2	asymptomatic		Millar et al 2000

c.244T>C

p.Cys82Arg (Legacy AA No. 22)

Variant Type:

Point

Domain:

Gla

Sequence Context:

CGC > TGC

Variant Effect:

Missense

Location:

Exon (3)

No of bases:

1

No. of patients reported:

6

Allele Frequency (MAF):

0.0001092

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.245G>T

p.Cys82Phe (Legacy AA No. 22)

Variant Type:

Point

Domain:

Gla

Sequence Context:

TGC > TTC

Variant Effect:

Missense

Location:

Exon (3)

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
415	30			16	Heterozygous	5	Mild	Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC	Unpublished Submission

c.245G>A

p.Cys82Tyr (Legacy AA No. 22)

Variant Type:

Point

Domain:

Gla

Sequence Context:

TAC > TGC

Variant Effect:

Missense

Location:

Exon (3)

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
474		2	2	57	Heterozygous	1	Moderate		Borhany et al 2013

c.247T>C

p.Ser83Pro (Legacy AA No. 23)

Variant Type:

Point

Domain:

Gla

Sequence Context:

TCC > CCC

Variant Effect:

Missense

Location:

Exon (3)

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
252		<1		77	Heterozygous	-	severe		Peyvandi et al 2000b

c.250_252delTTC

p.Phe84del (Legacy AA No. 24)

Variant Type:

Deletion

Domain:

Gla

Sequence Context:

del TTC

Variant Effect:

Inframe

Location:

Exon (3)

No of bases:

3

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) 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
711	<1			30	Homozygous	-	Severe		Tamary et al 2000

c.253G>A

p.Glu85Lys (Legacy AA No. 25)

Variant Type:

Point

Domain:

Gla

Sequence Context:

GAG > AAG

Variant Effect:

Missense

Location:

Exon (3)

No of bases:

1

No. of patients reported:

2

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
757			1,2	21	Heterozygous	1	Unknown	Nagaizumi et al 2002
408			1.2	21	Heterozygous	5	asymptomatic	Unpublished Submission

c.256G>T

p.Glu86* (Legacy AA No. 26)

Variant Type:

Point

Domain:

Gla

Sequence Context:

GAG > TAG

Variant Effect:

Nonsense

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 | Nonsense) 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
415	30			16	Heterozygous	5	Mild	Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC	Unpublished Submission

c.262C>G

p.Arg88Gly (Legacy AA No. 28)

Variant Type:

Point

Domain:

Gla

Sequence Context:

CGG > GGG

Variant Effect:

Missense

Location:

Exon (3)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

5.38E-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
347		2		Heterozygous	5	mild	Giansily-Blaizot et al 2001
587	30_<50		UK	Heterozygous	-	Asymptomatic	Herrmann et al 2009

c.265G>A

p.Glu89Lys (Legacy AA No. 29)

Variant Type:

Point

Domain:

Gla

Sequence Context:

AAG > GAG

Variant Effect:

Missense

Location:

Exon (3)

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.

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

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

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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

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

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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