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.479A>G

p.Gln160Arg (Legacy AA No. 100)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CAG > CGG

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

0.0001376

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
13		<1		12	Homozygous	2	severe		Hunault et al 1999
197		2.3		20	Homozygous	1	severe		Kavlie et al 1998
194		1.3		10	Homozygous	1	severe		Kavlie et al 1998
305		2.2		14	Homozygous	1	severe		Kavlie et al 1998
253		0.6		11.5	Homozygous	1	severe		Kavlie et al 1998
201		1.8		10	Homozygous	1	severe		Kavlie et al 1998
198		6.5		17	Homozygous	1	severe		Kavlie et al 1998
195		1.9		18	Homozygous	1	severe		Kavlie et al 1998
298		2.1		11	Homozygous	1	severe		Kavlie et al 1998
202		6.4		26	Homozygous	1	severe		Kavlie et al 1998
199		2.9		13.5	Homozygous	1	severe		Kavlie et al 1998
196		1.6		20	Homozygous	1	severe		Kavlie et al 1998
307		2.3		17	Homozygous	1	severe		Kavlie et al 1998
193		2.4		17.5	Homozygous	1	severe		Kavlie et al 1998
304		2.2		23.5	Homozygous	1	severe		Kavlie et al 1998
287		2		28	Homozygous	1	severe		Kavlie et al 1998
224		4.5		14	Homozygous	1	severe		Kavlie et al 1998
200		1.4		13	Homozygous	1	severe		Kavlie et al 1998
189		<1		10	Homozygous	-	severe		Peyvandi et al 2000b
453	<1			10	Homozygous	-	Asymptomatic		Sabater-Lleal et al 2003
352		<1			Heterozygous	5	severe		Giansily-Blaizot et al 2001
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
355		<1		64	Heterozygous	5	asymptomatic		Giansily-Blaizot et al 2001
353					Heterozygous	1	unknown		Kavlie et al 1997
165					Heterozygous	1	unknown		Kavlie et al 1997
270		4	<1	60	Heterozygous	1	asymptomatic	FVII KANSAS	Kuppuswamy et al 1993
297		1		7	Heterozygous	3	severe		Millar et al 2000
186		7		43	Heterozygous	3	unknown		Millar et al 2000
162		15		21	Heterozygous	2	moderate		Millar et al 2000
306		1		6	Heterozygous	3	unknown		Millar et al 2000
187		2		6	Heterozygous	3	severe		Millar et al 2000
164		15			Heterozygous	2	mild		Millar et al 2000
188		35			Heterozygous	6	unknown		Wulff et al 2000
12			7	47	Heterozygous	-	asymptomatic	other allele is not determined	Takamiya et al 1993

c.479A>T

p.Gln160Leu (Legacy AA No. 100)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

CTG > CAG

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

No. of patients reported:

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
443	2_<6			not in the abstract	Heterozygous	1	Moderate		Jin et al 2012

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