RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 999 		cDNA Change c.525C>T
Amino Acid Change p.His175= (Legacy AA No. 115)
Type Point
Effect Silent
Domain EGF2
Sequence Context CAC > CAT
Location Exon( 6)
Minor Allele Frequency (MAF) 0.1419

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
9 4 Homozygous <1 2 mild Hunault et al 1999
10 9 Homozygous 14-40 asymptomatic Wulff et al 2000
11 5 Homozygous 27 35 asymptomatic Bernardi et al 1993
15 3 Heterozygous 27 41 unknown Alshinawi et al 1998 FVII MALTA I
19 3 Heterozygous 37 30 asymptomatic Marchetti et al 1993
22 6 Homozygous 43 42 asymptomatic Bernardi et al 1993
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 Homozygous 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 Homozygous 31 asymptomatic Tamary et al 1996
46 6 Heterozygous 39 asymptomatic Tamary et al 1996
47 6 Homozygous 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
87 8 Homozygous <1 <1 unknown Wulff et al 2000
90 4 Heterozygous 12 14 asymptomatic Alshinawi et al 1998 FVII MALTA I & II
95 6 Heterozygous 2 10 mild Bernardi et al 1993 FVII LAZIO
102 7 Homozygous 3 4 unknown Wulff et al 2000
134 6 Heterozygous 3 23 mild 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
204 5 Homozygous <1 <1 severe Carew et al 1998
225 8 Heterozygous <1 severe Giansily-Blaizot et al 2001
237 5 Heterozygous <1 unknown Wulff et al 2000 other lesion unknown
238 7 Heterozygous 15 60 asymptomatic Wulff et al 2000
243 7 Heterozygous 18 74 unknown Wulff et al 2000 other lesion unknown
318 4 Heterozygous 27 unknown Wulff et al 2000
320 5 Heterozygous 27 24 unknown Bernardi et al 1993 FVII LAZIO
328 8 Homozygous 9 31 mild Wulff et al 2000
344 6 Heterozygous 3 10 asymptomatic Giansily-Blaizot et al 2001
345 3 Heterozygous 38 unknown Alshinawi et al 1998 FVII MALTA II
347 6 Heterozygous 2 mild Giansily-Blaizot et al 2001
349 5 Homozygous <1 47 mild Giansily-Blaizot et al 2001
359 5 Heterozygous 2 mild Giansily-Blaizot et al 2001 other mutation unknown
383 5 Homozygous 52 56 unknown Bernardi et al 1993
385 6 Homozygous <1 6 mild Giansily-Blaizot et al 2001
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
392 3 Heterozygous 45 57 unknown Alshinawi et al 1998 FVII MALTA II
410 7 Heterozygous 23 24 asymptomatic Unpublished Submission
413 6 Heterozygous 28 Mild Unpublished Submission
414 6 Heterozygous 29 Asymptomatic Unpublished Submission other mutation unknown
415 6 Heterozygous 30 16 Mild Unpublished Submission Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC