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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 3 unique variants retrieved

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  c.1345C>T
p.(Arg449Trp) Legacy AA 403
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1345
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
19
No. of bases:
1
Allele Frequency (MAF):
3.91E-5
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3792
13
-
Mild
-
Spain
-
Montejo et al (1999)
3793
34
-
Mild
-
Spain
-
Montejo et al (1999)
3770
41
Mild
Ireland
Jenkins et al (2008)
2831
-
-
-
-
Centre B34 (unpublished)
2832
-
-
Mild
-
Germany
-
Wulff et al (1995)
2833
32
-
Mild
-
-
Centre B30 (unpublished)
2834
33
-
Mild
-
-
Centre B30 (unpublished)
2835
19
-
Mild
-
France
-
Costa et al (2000)
2836
-
-
-
United States
-
Liu et al (1997)
2837
19
-
Mild
-
Spain
-
Montejo et al (1999)
2838
23
-
Mild
-
France
-
Costa et al (2000)
2839
28
-
Mild
-
-
Centre B25 (unpublished)
2840
35
-
Mild
-
-
Centre B25 (unpublished)
2841
33
-
Mild
-
-
Centre B13 (unpublished)
2842
-
-
-
-
Centre B13 (unpublished)
2843
25
-
Mild
-
-
Centre B25 (unpublished)
2844
40
-
Mild
-
-
Centre B25 (unpublished)
4544
32
Mild
NO
United States
Johnsen et al (2017)
4545
35
Mild
NO
United States
Johnsen et al (2017)
  c.1346G>A
p.(Arg449Gln) Legacy AA 403
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1346
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
7
No. of bases:
1
Allele Frequency (MAF):
8.2E-5
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2845
30
60
Mild
II
Canada
-
Poon et al (1993)
2846
29
-
Mild
-
-
Aguilar-Martinez et al (1994B)
2847
12
-
Mild
-
United Kingdom
-
Saad et al (1994)
2848
48
185
Mild
II
Netherlands
-
Wojcik et al (1995)
2849
25
132
Mild
II
-
Centre B45 (unpublished)
2850
29
-
Mild
-
France
-
Costa et al (2000)
2851
33
101
Mild
II
-
Centre B25 (unpublished)
  c.1347delG
p.(Arg449fs*?) Legacy AA 403
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1347
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2852
<1
-
Severe
-
France
-
Ghanem et al (1993)
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