Factor VII Variant Database

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Search Results: 15 unique variants retrieved

c.713G>A

p.Cys238Tyr (Legacy AA No. 178)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGT > TAT

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

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
19	37			30	Heterozygous	2	asymptomatic		Marchetti et al 1993

c.715G>C

p.Gly239Arg (Legacy AA No. 179)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > CGG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

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
387	2		62	Heterozygous	6	mild	Giansily-Blaizot et al 2001
344		3	10	Heterozygous	5	asymptomatic	Giansily-Blaizot et al 2001

c.718G>A

p.Gly240Arg (Legacy AA No. 180)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > AGG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

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
729	<1		UK	Homozygous	-	Severe	Landau et al 2009
134		3	23	Heterozygous	5	mild	Giansily-Blaizot et al 2001

c.722C>A

p.Thr241Asn (Legacy AA No. 181)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ACC > AAC

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

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
317	1		1	Heterozygous	2	mild	Millar et al 2000
432	UK		UK	Heterozygous	1	Unknown	Tu et al 2006

c.749C>T

p.Ser250Phe (Legacy AA No. 190)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > TCC

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

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
435		4		130	Heterozygous	1	Mild		Jiang et al 2011

c.751G>C

p.Ala251Pro (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCG > GCG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
695	<1			46	Heterozygous	1	Severe		Mota et al 2009

c.751G>A

p.Ala251Thr (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCG > ACG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

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
354	<5		25	Homozygous	4	asymptomatic	Giansily-Blaizot et al 2001
417	6		7	Heterozygous	1	Asymptomatic	Borensztajn et al 2005

c.752C>A

p.Ala251Glu (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAG > GCG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

8.3E-6

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
687	<1			UK	Homozygous	-	Severe		Jayandharan et al 2007

c.752C>T

p.Ala251Val (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GTG > GCG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

2.48E-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
416	4			5	Homozygous	-	Asymptomatic		Borensztajn et al 2005

c.760T>C

p.Cys254Arg (Legacy AA No. 194)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGT > TGT

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

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
573	3			UK	Heterozygous	2	Severe		Herrmann et al 2009

c.761G>A

p.Cys254Tyr (Legacy AA No. 194)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGT > TAT

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
563	1			UK	Heterozygous	1	Severe		Herrmann et al 2009
413	28				Heterozygous	5	Mild		Unpublished Submission
237		<1			Heterozygous	4	unknown	other lesion unknown	Wulff et al 2000

c.791T>C

p.Leu264Pro (Legacy AA No. 204)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CTG > CCG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

1.65E-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
787	7.5			23	Heterozygous	-	Asymptomatic		Kavlie et al 2004

c.795_805+26[7]

(Legacy AA No. 0)

Variant Type:

Indel

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Intronic

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

0.31

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Indel | Intronic) of the variant at Exon 8

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
68		16		82	Homozygous	3	asymptomatic		Bernardi et al 1994a
65		31		113	Homozygous	3	asymptomatic		Bernardi et al 1996
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001
133		5			Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
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
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
87		<1		<1	Homozygous	7	unknown		Wulff et al 2000
57		6		61	Homozygous	6	unknown		Wulff et al 2000
102		3		4	Homozygous	6	unknown		Wulff et al 2000
216		<1			Homozygous	6	unknown		Wulff et al 2000
11		27		35	Heterozygous	4	asymptomatic		Bernardi et al 1993
320		27		24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
95		2		10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
22		43		42	Heterozygous	5	asymptomatic		Bernardi et al 1993
383		52		56	Homozygous	4	unknown		Bernardi et al 1993
144		35		64	Heterozygous	3	asymptomatic		Bernardi et al 1994a
127		54		73	Heterozygous	3	unknown		Bernardi et al 1994a
69		46		75	Heterozygous	3	unknown		Bernardi et al 1994a
128		33		70	Homozygous	3	asymptomatic		Bernardi et al 1994a
81		45		73	Heterozygous	3	unknown		Bernardi et al 1994a
254		44		40	Heterozygous	3	unknown		Bernardi et al 1994b
381		59		98	Heterozygous	3	unknown		Bernardi et al 1994b
82		42		85	Heterozygous	3	asymptomatic		Bernardi et al 1996
98		60		50	Homozygous	3	unknown		Bernardi et al 1996
145		39		104	Homozygous	3	asymptomatic		Bernardi et al 1996
83		48		108	Homozygous	3	asymptomatic		Bernardi et al 1996
229		42		46	Heterozygous	3	asymptomatic		Bernardi et al 1996
61		50		87	Heterozygous	3	asymptomatic		Bernardi et al 1996
99		44		49	Homozygous	3	asymptomatic		Bernardi et al 1996
96		78		81	Heterozygous	3	unknown		Bernardi et al 1996
23		60		58	Heterozygous	3	unknown		Bernardi et al 1996
97		62		58	Heterozygous	3	unknown		Bernardi et al 1996
155		4		48	Homozygous	8	mild		Giansily-Blaizot et al 2001
132		5		55	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
225		<1			Homozygous	7	severe		Giansily-Blaizot et al 2001
371	<1			25	Heterozygous	6	severe		Giansily-Blaizot et al 2001
387	2			62	Heterozygous	6	mild		Giansily-Blaizot et al 2001
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
153		2			Homozygous	7	mild	Female	Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
367	3			37	Heterozygous	5	asymptomatic	other mutation unknown	Giansily-Blaizot et al 2001
208		2			Heterozygous	6	severe		Giansily-Blaizot et al 2001
267	100 (bovine)		58	74	Homozygous	1	unknown		Marchetti et al 1992
266	100 (bovine)		40	70	Homozygous	2	moderate		Marchetti et al 1992
140	100 (bovine)		75	108	Homozygous	1	unknown		Marchetti et al 1992
43			33		Homozygous	5	asymptomatic		Tamary et al 1996
40			5		Homozygous	6	asymptomatic		Tamary et al 1996
47			28		Heterozygous	10	asymptomatic		Tamary et al 1996
44			33		Homozygous	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		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
414	29				Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission
408			1.2	21	Homozygous	5	asymptomatic		Unpublished Submission
415	30			16	Homozygous	5	Mild	Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC	Unpublished Submission
411			52	73	Heterozygous	3	asymptomatic		Unpublished Submission
329			<1	6	Heterozygous	5	mild		Unpublished Submission
413	28				Homozygous	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
243		18		74	Heterozygous	6	unknown	other lesion unknown	Wulff et al 2000
217		10			Heterozygous	7	unknown		Wulff et al 2000
213		08-Dec			Homozygous	8	unknown		Wulff et al 2000
188		35			Heterozygous	6	unknown		Wulff et al 2000
218		4			Homozygous	7	mild		Wulff et al 2000
214		11			Homozygous	8	asymptomatic		Wulff et al 2000
86		02-Apr			Homozygous	7	unknown		Wulff et al 2000
10		14-40			Homozygous	8	asymptomatic		Wulff et al 2000
238	15			60	Heterozygous	6	asymptomatic		Wulff et al 2000
220	2 to 9				Homozygous	6	mild		Wulff et al 2000

c.795_805+26[8]

(Legacy AA No. 0)

Variant Type:

Indel

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Intronic

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Indel | Intronic) of the variant at Exon 8

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
318		27			Heterozygous	3	unknown		Wulff et al 2000

c.796G>A

p.Ala266Thr (Legacy AA No. 206)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCG > ACG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

8.3E-6

Molecular Graphics and Amino-acid Alignments

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

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
492	30		UK	Heterozygous	1	Asymptomatic	Herrmann et al 2000
238	15		60	Heterozygous	6	asymptomatic	Wulff et al 2000

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: 15 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

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR