Factor VII Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

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TABULAR

Search Results: 6 unique variants retrieved

c.805+3_805+6del

(Legacy AA No. 0)

Variant Type:

Deletion

Domain:

Sequence Context:

TGGgtgggtacc>TGGgtacc

Variant Effect:

Frameshift

Location:

Intron (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 (Deletion | Frameshift) of the variant at Intron 8

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
249		50		50	Heterozygous	2	moderate		Millar et al 2000
185		55		50	Heterozygous	2	moderate		Millar et al 2000
319		61		58	Heterozygous	-	asymptomatic		Pinotti et al 1998
318		27			Heterozygous	3	unknown		Wulff et al 2000

c.805+1G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

3.31E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 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
577	1			UK	Heterozygous	1	Severe		Herrmann et al 2009

c.805+7A>G

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

0.012

Molecular Graphics and Amino-acid Alignments

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

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
22		43		42	Heterozygous	5	asymptomatic		Bernardi et al 1993
448		UK	UK	UK	Heterozygous	1	Unknown		Li et al 2015
227					Heterozygous	-	unknown		Wulff et al 2000

c.805+5G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (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 (Point | Intronic) of the variant at Intron 8

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
21		2	1	Homozygous	4	severe	FVII LAZIO	Bernardi et al 1993
92		1	1	Homozygous	4	severe	FVII LAZIO	Bernardi et al 1993
184		1.1	1	Homozygous	4	severe	FVII LAZIO	Bernardi et al 1993
93		1.2	1	Homozygous	4	severe	FVII LAZIO	Bernardi et al 1993
94		<1	<1	Homozygous	-	severe		Pinotti et al 1998
320		27	24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
95		2	10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
20		21	25	Heterozygous	2	mild		Millar et al 2000
732	1		42	Heterozygous	1	Mild		Toso et al 2003

c.806-20G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (8)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

0.1342

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 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
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001
354	<5			25	Homozygous	4	asymptomatic		Giansily-Blaizot et al 2001
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
37			4		Homozygous	5	asymptomatic		Tamary et al 1996
131		5		44	Heterozygous	6	asymptomatic		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
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
134		3		23	Heterozygous	5	mild		Giansily-Blaizot et al 2001
363		<1		17	Homozygous	5	mild		Giansily-Blaizot et al 2001
347		2			Homozygous	5	mild		Giansily-Blaizot et al 2001
225		<1			Heterozygous	7	severe		Giansily-Blaizot et al 2001
153		2			Homozygous	7	mild	Female	Giansily-Blaizot et al 2001
277	5				Homozygous	5	mild		Giansily-Blaizot et al 2001
155		4		48	Homozygous	8	mild		Giansily-Blaizot et al 2001
47			28		Homozygous	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		Heterozygous	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		Homozygous	14	asymptomatic		Tamary et al 1996
43			33		Homozygous	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
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
413	28				Heterozygous	5	Mild		Unpublished Submission
414	29				Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission

c.806_820del

p.Glu270_Ser274del (Legacy AA No. 210)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Inframe

Location:

Intron (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 (Deletion | Inframe) of the variant at Intron 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
260	<1				Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001

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: 6 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

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR