Factor VII Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

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Search Results: 3 unique variants retrieved

c.469G>T

p.Gly157Cys (Legacy AA No. 97)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGC > TGC

Variant Effect:

Missense

Location:

Exon (6)

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
9		<1	2	Homozygous	3	mild		Hunault et al 1999
383		52	56	Heterozygous	4	unknown		Bernardi et al 1993
95		2	10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
192	<1		8	Heterozygous	6	mild		Giansily-Blaizot et al 2001

c.469G>A

p.Gly157Ser (Legacy AA No. 97)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGC > AGC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

2.61E-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
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
11		27		35	Heterozygous	4	asymptomatic		Bernardi et al 1993
589	30_<50			UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009
10		14-40			Heterozygous	8	asymptomatic		Wulff et al 2000

c.470G>T

p.Gly157Val (Legacy AA No. 97)

Variant Type:

Point

Domain:

EGF2

Sequence Context:

GGC > GTC

Variant Effect:

Missense

Location:

Exon (6)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

8.7E-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(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
302		10	10	52	Heterozygous	3	asymptomatic		Takamiya et al 1993

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: 3 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

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR