Factor VII Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

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Search Results: 1 unique variant retrieved.

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
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
38			5		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
345			38		Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
90			12	14	Heterozygous	3	asymptomatic	FVII MALTA I & II	Alshinawi et al 1998
392			45	57	Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
15			27	41	Heterozygous	2	unknown	FVII MALTA I	Alshinawi et al 1998
22		43		42	Homozygous	5	asymptomatic		Bernardi et al 1993
11		27		35	Homozygous	4	asymptomatic		Bernardi et al 1993
320		27		24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
383		52		56	Homozygous	4	unknown		Bernardi et al 1993
95		2		10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
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
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
19	37			30	Heterozygous	2	asymptomatic		Marchetti et al 1993
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
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
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
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
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
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

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: 1 unique variant retrieved.

Molecular Graphics and Amino-acid Alignments

Patient Information : Show

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR