Factor VII Variant Database

Variant ID: 80	cDNA Change	c.911C>T
	Amino Acid Change	p.Ala304Val (Legacy AA No. 244)
	Type	Point
	Effect	Missense
	Domain	Serine Protease
	Sequence Context	GCG > GTG
	Location	Exon( 9)
	Minor Allele Frequency (MAF)	0.000151

The details of the cases reported with the above variant is as below

Case ID	Other Variants found in case	Genotype	FVII:C (%)			FVII:Ag (%)	Reported Clinical Severity	Reference	Comments
Case ID	Other Variants found in case	Genotype	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag (%)	Reported Clinical Severity	Reference	Comments
90	4	Heterozygous			12	14	asymptomatic	Alshinawi et al 1998	FVII MALTA I & II
344	6	Heterozygous		3		10	asymptomatic	Giansily-Blaizot et al 2001
414	6	Heterozygous	29				Asymptomatic	Unpublished Submission	other mutation unknown
266	3	Heterozygous	100 (bovine)		40	70	moderate	Marchetti et al 1992
40	7	Heterozygous			5		asymptomatic	Tamary et al 1996
131	7	Heterozygous		5		44	asymptomatic	Giansily-Blaizot et al 2001
27	6	Homozygous			3.5		asymptomatic	Tamary et al 1996
28	6	Homozygous			7		asymptomatic	Tamary et al 1996
29	6	Homozygous			9.4		asymptomatic	Tamary et al 1996
30	6	Homozygous			9		asymptomatic	Tamary et al 1996
31	6	Homozygous			5	9	asymptomatic	Tamary et al 1996
32	6	Homozygous			4		asymptomatic	Tamary et al 1996
33	6	Homozygous			6		asymptomatic	Tamary et al 1996
34	6	Homozygous			7	7	asymptomatic	Tamary et al 1996
35	6	Homozygous			3	5	asymptomatic	Tamary et al 1996
36	6	Homozygous			14		asymptomatic	Tamary et al 1996
37	6	Homozygous			4		asymptomatic	Tamary et al 1996
38	6	Homozygous			5		asymptomatic	Tamary et al 1996
39	6	Homozygous			5.5		asymptomatic	Tamary et al 1996
41	6	Heterozygous			19		asymptomatic	Tamary et al 1996
42	6	Heterozygous			46		asymptomatic	Tamary et al 1996
43	6	Heterozygous			33		asymptomatic	Tamary et al 1996
44	6	Heterozygous			33		asymptomatic	Tamary et al 1996
45	6	Heterozygous			31		asymptomatic	Tamary et al 1996
46	6	Heterozygous			39		asymptomatic	Tamary et al 1996
47	6	Heterozygous			28		asymptomatic	Tamary et al 1996
48	6	Heterozygous			32		asymptomatic	Tamary et al 1996
49	6	Heterozygous			25		asymptomatic	Tamary et al 1996
392	3	Heterozygous			45	57	unknown	Alshinawi et al 1998	FVII MALTA II
345	3	Heterozygous			38		unknown	Alshinawi et al 1998	FVII MALTA II
102	7	Homozygous		3		4	unknown	Wulff et al 2000
50	3	Homozygous		2		4	asymptomatic	Millar et al 2000
51	3	Homozygous		9		10	asymptomatic	Millar et al 2000
456	2	Heterozygous	5			7	Asymptomatic	Giansily-Blaizot et al 2001
491	1	Homozygous	3.4			4.1	Mild	Herrmann et al 2000
714	2	Heterozygous	7.5			UK	Mild	Fromovich-Amit et al 2004
821	1	Homozygous	7			9	Mild	Hunault et al 1999