Factor VII Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Search Results: 2 unique variants retrieved

c.1090C>T

p.Arg364Trp (Legacy AA No. 304)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > TGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

1.7E-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
63		2			Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
397	60 (bovine)	16	<5	87	Homozygous	-	asymptomatic	FVII NAGOYA	Matsushita et al 1994
430	UK			UK	Heterozygous	1	Unknown		Ding et al 2003

c.1091G>A

p.Arg364Gln (Legacy AA No. 304)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > CAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

0.000519

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
68		16		82	Homozygous	3	asymptomatic		Bernardi et al 1994a
70		18		78	Homozygous	-	unknown		Bernardi et al 1994a
65		31		113	Homozygous	3	asymptomatic		Bernardi et al 1996
133		5			Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
130		2		72	Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
391	100 (bovine)		9	100	Homozygous	-	mild	FVII PADUA	James et al 1993a
390		30	<1	104	Homozygous	-	asymptomatic		O'Brien et al 1991
137		24		156	Homozygous	-	asymptomatic		Peyvandi et al 2000b
138		17		106	Homozygous	-	asymptomatic		Peyvandi et al 2000b
135		37		240	Homozygous	-	asymptomatic		Peyvandi et al 2000b
139		22		130	Homozygous	-	asymptomatic		Peyvandi et al 2000b
136		27		224	Homozygous	-	mild		Peyvandi et al 2000b
365		14		120	Homozygous	-	asymptomatic	FVII RICHMOND; PE & DVT	Sabharwal et al 1992
393	124 bovine	21	14		Homozygous	-	asymptomatic	FVII DETROIT; DVT	Shurafa et al 1993
64			<1	100	Homozygous	-	asymptomatic		Takamiya et al 1993
67		52		83	Heterozygous	-	unknown		Bernardi et al 1994a
127		54		73	Heterozygous	3	unknown		Bernardi et al 1994a
74		45		84	Heterozygous	-	unknown		Bernardi et al 1994a
71		54		85	Heterozygous	-	unknown		Bernardi et al 1994a
128		33		70	Heterozygous	3	asymptomatic		Bernardi et al 1994a
75		34		83	Heterozygous	-	unknown		Bernardi et al 1994a
72		52		97	Heterozygous	-	unknown		Bernardi et al 1994a
69		46		75	Heterozygous	3	unknown		Bernardi et al 1994a
66		72		124	Heterozygous	-	unknown		Bernardi et al 1994a
129		47		82	Heterozygous	-	unknown		Bernardi et al 1994a
126		44		88	Heterozygous	3	unknown		Bernardi et al 1994a
73		61		90	Heterozygous	-	unknown		Bernardi et al 1994a
134		3		23	Heterozygous	5	mild		Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
132		5		55	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
400		16	6.7	67	Heterozygous	-	asymptomatic	FVII LITTLE ROCK - possibly a compound heterozygote	James et al 1993b
269		20	20	50	Heterozygous	-	mild	FVII VERONA	James et al 1993c
270		4	<1	60	Heterozygous	1	asymptomatic	FVII KANSAS	Kuppuswamy et al 1993
268	100 (bovine)		51	117	Heterozygous	-	unknown		Marchetti et al 1992
140	100 (bovine)		75	108	Heterozygous	1	unknown		Marchetti et al 1992
266	100 (bovine)		40	70	Heterozygous	2	moderate		Marchetti et al 1992
267	100 (bovine)		58	74	Heterozygous	1	unknown		Marchetti et al 1992
420		38	38	70	Heterozygous	-	Unknown		Rodrigues et al 2003
40			5		Heterozygous	6	asymptomatic		Tamary et al 1996

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: 2 unique variants retrieved

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