Factor VII Variant Database

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MULTIPLE (With Patient Data) :

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Search Results: 115 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

1 2 3

c.1247G>A

p.Trp416* (Legacy AA No. 356)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGG > TAG

Variant Effect:

Nonsense

Location:

Exon (9)

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 | Nonsense) of the variant at Exon 9

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
84		50		48	Heterozygous	3	unknown		Bernardi et al 1994a
85		7		41	Heterozygous	4	moderate		Bernardi et al 1994a
147		48		48	Heterozygous	3	asymptomatic		Bernardi et al 1994a

c.1256C>T

p.Thr419Met (Legacy AA No. 359)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ACG > ATG

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

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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
174	1			2	Homozygous	5	severe		Giansily-Blaizot et al 2001
412		1.6	0.8	2	Homozygous	2	mild	FVII TOYAMA	Ozawa et al 1997
233		<1		<1	Homozygous	-	mild		Peyvandi et al 2000b
274			<1	2	Homozygous	3	severe		Unpublished Submission
375			<1		Homozygous	2	severe		Unpublished Submission
369		<1		<1	Heterozygous	2	severe		Arbini et al 1996
428	UK			UK	Heterozygous	1	Unknown		Chu et al 2002
86		02-Apr			Heterozygous	7	unknown		Wulff et al 2000

c.1264G>T

p.Val422Phe (Legacy AA No. 362)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > GTC

Variant Effect:

Missense

Location:

Exon (9)

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
745	3			58	Heterozygous	1		Haemorrhages and Thrombosis	Mariani et al 2003

c.1268G>T

p.Ser423Ile (Legacy AA No. 363)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

AGC > ATC

Variant Effect:

Missense

Location:

Exon (9)

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
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
730	<1			130	Homozygous	-	Mild		Peyvandi et al 2000
275		<1		80	Homozygous	-	mild		Peyvandi et al 2000b
276		<1		130	Homozygous	-	mild		Peyvandi et al 2000b

c.1271_1272del2insTT

p.Trp424Phe (Legacy AA No. 364)

Variant Type:

Indel

Domain:

Serine Protease

Sequence Context:

TGG > TTT

Variant Effect:

Missense

Location:

Exon (9)

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
278		6		77	Homozygous	-	severe		Peyvandi et al 2000b

c.1272G>A

p.Trp424* (Legacy AA No. 364)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGG > TGA

Variant Effect:

Nonsense

Location:

Exon (9)

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 | Nonsense) of the variant at Exon 9

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
277	5				Heterozygous	5	mild		Giansily-Blaizot et al 2001

c.1272G>C

p.Trp424Cys (Legacy AA No. 364)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGG > TGC

Variant Effect:

Missense

Location:

Exon (9)

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(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
691	<1		UK	Homozygous	1	Mild	Jayandharan et al 2007
358		<1	132	Homozygous	-	severe	Peyvandi et al 2000b

c.1273G>T

p.Gly425Cys (Legacy AA No. 365)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGC > GGC

Variant Effect:

Missense

Location:

Exon (9)

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
564	6			UK	Heterozygous	1	Severe		Herrmann et al 2009

c.1285G>A

p.Ala429Thr (Legacy AA No. 369)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ACA > GCA

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

5.09E-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
TF-Unknown	TF-Human	TF-Rabbit
456	5			7	Heterozygous	1	Asymptomatic		Giansily-Blaizot et al 2001

c.1304G>A

p.Gly435Glu (Legacy AA No. 375)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > GAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

4.24E-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
521	2			45	Homozygous	-	Severe		Herrmann et al 2009
353					Heterozygous	1	unknown		Kavlie et al 1997
173		1		9	Heterozygous	3	severe		Millar et al 2000

c.1315A>G

p.Arg439Gly (Legacy AA No. 379)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

AGG > GGG

Variant Effect:

Missense

Location:

Exon (9)

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
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001

c.1324C>T

p.Gln442* (Legacy AA No. 382)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TAG > CAG

Variant Effect:

Nonsense

Location:

Exon (9)

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 | Nonsense) of the variant at Exon 9

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
688	<1			UK	Homozygous	-	Severe		Jayandharan et al 2007

c.1333G>A

p.Glu445Lys (Legacy AA No. 385)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

AAG > GAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

0.0003505

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
808		35	35	UK	Heterozygous	-	Mild		Cutler et al 2005

c.1384C>T

p.Arg462* (Legacy AA No. 402)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGA > CGA

Variant Effect:

Nonsense

Location:

Exon (9)

No of bases:

No. of patients reported:

Allele Frequency (MAF):

2.68E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 9

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
459	2			UK	Homozygous	-	Asymptomatic		Branchini et al 2012

c.1391delC

p.Pro464Hisfs*32 (Legacy AA No. 404)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delC

Variant Effect:

Frameshift

Location:

Exon (9)

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 Exon 9

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
104		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
60		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
117		4	4	12	Homozygous	2	moderate		Arbini et al 1994
114		3	4	17	Homozygous	2	moderate		Arbini et al 1994
105		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
58		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
108		<2	<2	4	Homozygous	2	moderate		Arbini et al 1994
103		<2	<2	3	Homozygous	2	severe		Arbini et al 1994
59		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
110		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
87		<1		<1	Homozygous	7	unknown		Wulff et al 2000
111		40	44	45	Heterozygous	2	asymptomatic		Arbini et al 1994
115		40	36	42	Heterozygous	2	asymptomatic		Arbini et al 1994
112		52	44	43	Heterozygous	2	mild		Arbini et al 1994
116		60	62	56	Heterozygous	2	asymptomatic		Arbini et al 1994
113		38	27	34	Heterozygous	2	asymptomatic		Arbini et al 1994
379		<1		<1	Heterozygous	2	severe		Carew et al 1998
225		<1			Heterozygous	7	severe		Giansily-Blaizot et al 2001
153		2			Heterozygous	7	mild	Female	Giansily-Blaizot et al 2001
155		4		48	Heterozygous	8	mild		Giansily-Blaizot et al 2001
489	15			UK	Heterozygous	2	Moderate		Herrmann et al 2000
168		<1		10	Heterozygous	8	unknown		Wulff et al 2000
10		14-40			Heterozygous	8	asymptomatic		Wulff et al 2000
292		15			Heterozygous	8	severe		Wulff et al 2000
169		1		1	Heterozygous	8	mild		Wulff et al 2000
213		08-Dec			Heterozygous	8	unknown		Wulff et al 2000

1 2 3

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: 115 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

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

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

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