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) | 0.0001515 |
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 | |||||||
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 | Heterozygous | 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 | ||||
50 | 3 | Homozygous | 2 | 4 | asymptomatic | Millar et al 2000 | |||
51 | 3 | Homozygous | 9 | 10 | asymptomatic | Millar et al 2000 | |||
90 | 4 | Heterozygous | 12 | 14 | asymptomatic | Alshinawi et al 1998 | FVII MALTA I & II | ||
102 | 7 | Homozygous | 3 | 4 | unknown | Wulff et al 2000 | |||
131 | 7 | Heterozygous | 5 | 44 | asymptomatic | Giansily-Blaizot et al 2001 | |||
266 | 3 | Heterozygous | 100 (bovine) | 40 | 70 | moderate | Marchetti et al 1992 | ||
344 | 6 | Heterozygous | 3 | 10 | asymptomatic | Giansily-Blaizot et al 2001 | |||
345 | 3 | Heterozygous | 38 | unknown | Alshinawi et al 1998 | FVII MALTA II | |||
392 | 3 | Heterozygous | 45 | 57 | unknown | Alshinawi et al 1998 | FVII MALTA II | ||
414 | 6 | Heterozygous | 29 | Asymptomatic | Unpublished Submission | other mutation unknown | |||
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 |