RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 994 		cDNA Change c.806-20G>A
Amino Acid Change (Legacy AA No. 0)
Type Point
Effect Intronic
Domain
Sequence Context
Location Intron( 8)
Minor Allele Frequency (MAF) 0.1342

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 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 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 Homozygous 39 asymptomatic Tamary et al 1996
47 6 Homozygous 28 asymptomatic Tamary et al 1996
48 6 Heterozygous 32 asymptomatic Tamary et al 1996
49 6 Heterozygous 25 asymptomatic Tamary et al 1996
131 7 Heterozygous 5 44 asymptomatic Giansily-Blaizot et al 2001
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
225 8 Heterozygous <1 severe Giansily-Blaizot et al 2001
277 6 Homozygous 5 mild Giansily-Blaizot et al 2001
344 6 Homozygous 3 10 asymptomatic Giansily-Blaizot et al 2001
347 6 Homozygous 2 mild Giansily-Blaizot et al 2001
354 5 Homozygous <5 25 asymptomatic Giansily-Blaizot et al 2001
359 5 Heterozygous 2 mild Giansily-Blaizot et al 2001 other mutation unknown
363 6 Homozygous <1 17 mild Giansily-Blaizot et al 2001
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
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