RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 990 		cDNA Change c.795_805+26[7]
Amino Acid Change (Legacy AA No. 0)
Type Indel
Effect Intronic
Domain Serine Protease
Sequence Context
Location Exon( 8)
Minor Allele Frequency (MAF) 0.31

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
TF-Unknown TF-Human TF-Rabbit
10 9 Homozygous 14-40 asymptomatic Wulff et al 2000
11 5 Heterozygous 27 35 asymptomatic Bernardi et al 1993
22 6 Heterozygous 43 42 asymptomatic Bernardi et al 1993
23 4 Heterozygous 60 58 unknown Bernardi et al 1996
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
40 7 Homozygous 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 Homozygous 33 asymptomatic Tamary et al 1996
44 6 Homozygous 33 asymptomatic Tamary et al 1996
45 6 Homozygous 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 Homozygous 32 asymptomatic Tamary et al 1996
49 6 Homozygous 25 asymptomatic Tamary et al 1996
57 7 Homozygous 6 61 unknown Wulff et al 2000
61 4 Heterozygous 50 87 asymptomatic Bernardi et al 1996
65 4 Homozygous 31 113 asymptomatic Bernardi et al 1996
68 4 Homozygous 16 82 asymptomatic Bernardi et al 1994a
69 4 Heterozygous 46 75 unknown Bernardi et al 1994a
81 4 Heterozygous 45 73 unknown Bernardi et al 1994a
82 4 Heterozygous 42 85 asymptomatic Bernardi et al 1996
83 4 Homozygous 48 108 asymptomatic Bernardi et al 1996
86 8 Homozygous 02-Apr unknown Wulff et al 2000
87 8 Homozygous <1 <1 unknown Wulff et al 2000
95 6 Heterozygous 2 10 mild Bernardi et al 1993 FVII LAZIO
96 4 Heterozygous 78 81 unknown Bernardi et al 1996
97 4 Heterozygous 62 58 unknown Bernardi et al 1996
98 4 Homozygous 60 50 unknown Bernardi et al 1996
99 4 Homozygous 44 49 asymptomatic Bernardi et al 1996
102 7 Homozygous 3 4 unknown Wulff et al 2000
127 4 Heterozygous 54 73 unknown Bernardi et al 1994a
128 4 Homozygous 33 70 asymptomatic Bernardi et al 1994a
140 2 Homozygous 100 (bovine) 75 108 unknown Marchetti et al 1992
144 4 Heterozygous 35 64 asymptomatic Bernardi et al 1994a
145 4 Homozygous 39 104 asymptomatic Bernardi et al 1996
188 7 Heterozygous 35 unknown Wulff et al 2000
213 9 Homozygous 08-Dec unknown Wulff et al 2000
214 8 Homozygous 11 asymptomatic Wulff et al 2000
216 8 Homozygous <1 unknown Wulff et al 2000
217 8 Heterozygous 10 unknown Wulff et al 2000
218 8 Homozygous 4 mild Wulff et al 2000
220 7 Homozygous 2 to 9 mild Wulff et al 2000
229 4 Heterozygous 42 46 asymptomatic Bernardi et al 1996
238 7 Heterozygous 15 60 asymptomatic Wulff et al 2000
243 7 Heterozygous 18 74 unknown Wulff et al 2000 other lesion unknown
254 4 Heterozygous 44 40 unknown Bernardi et al 1994b
266 3 Homozygous 100 (bovine) 40 70 moderate Marchetti et al 1992
267 2 Homozygous 100 (bovine) 58 74 unknown Marchetti et al 1992
320 5 Heterozygous 27 24 unknown Bernardi et al 1993 FVII LAZIO
329 6 Heterozygous <1 6 mild Unpublished Submission
381 4 Heterozygous 59 98 unknown Bernardi et al 1994b
383 5 Homozygous 52 56 unknown Bernardi et al 1993
388 6 Homozygous 32 Severe Unpublished Submission Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp
408 6 Homozygous 1.2 21 asymptomatic Unpublished Submission
411 4 Heterozygous 52 73 asymptomatic Unpublished Submission
413 6 Homozygous 28 Mild Unpublished Submission
414 6 Heterozygous 29 Asymptomatic Unpublished Submission other mutation unknown
415 6 Homozygous 30 16 Mild Unpublished Submission Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC
131 7 Heterozygous 5 44 asymptomatic Giansily-Blaizot et al 2001
132 7 Heterozygous 5 55 asymptomatic Giansily-Blaizot et al 2001
133 6 Homozygous 5 asymptomatic Giansily-Blaizot et al 2001
153 8 Homozygous 2 mild Giansily-Blaizot et al 2001 Female
155 7 Homozygous 4 48 mild Giansily-Blaizot et al 2001
192 7 Heterozygous <1 8 mild Giansily-Blaizot et al 2001
208 7 Heterozygous 2 severe Giansily-Blaizot et al 2001
225 8 Homozygous <1 severe Giansily-Blaizot et al 2001
367 6 Heterozygous 3 37 asymptomatic Giansily-Blaizot et al 2001 other mutation unknown
371 7 Heterozygous <1 25 severe Giansily-Blaizot et al 2001
385 6 Homozygous <1 6 mild Giansily-Blaizot et al 2001
387 7 Heterozygous 2 62 mild Giansily-Blaizot et al 2001