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Factor IX Gene (F9) Variant Database  

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



Search Results: 4 unique variants retrieved

  1. «
  2. 1
  3. »
  c.880C>T
p.(Arg294*) Legacy AA 248
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
880
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
92
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 (Point | Nonsense) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3745
<1
<1
Severe
United Kingdom
Green et al (1990)
3746
<1
<1
Severe
United Kingdom
Green et al (1990)
1616
<1
<0.1
Severe
-
YES
United Kingdom
-
Green et al (1989)
1618
<1
4
Severe
II
United Kingdom
-
Green et al (1990)
1619
4
-
Moderate
-
Tunisia
-
Elmahmoudi et al (2011)
1620
<1
-
Severe
-
United Kingdom
-
Green et al (1992)
1621
<1
<1
Severe
-
United States
-
Wang et al (1990)
1622
<1
<1
Severe
-
United States
-
Tarnower and Smith (1991)
1623
<1
<1
Severe
-
United States
-
Tarnower and Smith (1991)
1624
<1
<1
Severe
-
-
Centre B23 (unpublished)
1625
<1
<1
Severe
-
Canada
-
Poon et al (1993)
1626
-
-
Severe
-
United States
-
Bottema et al (1991)
1627
<1
<1
Severe
-
United States
-
Tarnower and Smith (1991)
1628
<1
-
Severe
-
United States
-
Bottema et al (1991)
1629
<1
-
Severe
-
India
-
Mahajan et al (2004)
1630
-
-
-
Turkey
-
Caglayan et al (1994)
1631
<1
<1
Severe
-
France
-
Tartary et al (1993)
1632
<1
-
Severe
-
France
-
Tartary et al (1993)
1633
<1
<1
Severe
-
YES
France
-
Tartary et al (1993)
1634
<1
<1
Severe
-
United States
-
Bottema et al (1993)
1635
-
-
-
Turkey
-
Onay et al (2003)
1636
<1
-
Severe
-
India
-
Jayandharan et al (2005)
1637
<1
<1
Severe
-
United States
-
Bottema et al (1993)
1638
2
<1
Moderate
I
United States
-
Bottema et al (1993)
1639
<1
1
Severe
-
United States
-
Bottema et al (1993)
1640
3
1.1
Moderate
I
United States
-
Gostout et al (1993)
1641
-
-
Severe
-
United States
-
Bottema et al (1993)
1642
-
-
Severe
-
YES
Italy
-
Belvini et al (2005)
1643
-
-
-
United Kingdom
-
Saad et al (1994)
1644
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
1645
<1
-
Severe
-
-
Centre B30 (unpublished)
1646
<1
-
Severe
-
-
Centre B37 (unpublished)
1647
<1
-
Severe
-
-
Centre B12 (unpublished)
1648
1
-
Moderate
-
-
Centre B30 (unpublished)
1649
2
-
Moderate
-
United States
-
Thorland et al (1995)
1650
-
-
-
-
Centre B17 (unpublished)
1652
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
1653
<1
-
Severe
-
-
Centre B35 (unpublished)
1654
<1
-
Severe
-
France
-
Costa et al (2000)
1655
<1
-
Severe
-
-
Centre B38 (unpublished)
1656
<1
<10
Severe
-
-
Centre B14 (unpublished)
1657
-
-
-
Germany
-
Wulff and Herrmann (1999)
1658
<1
<1
Severe
-
NO
France
-
Attali et al (1999)
1659
<1
9
Severe
II
NO
France
-
Attali et al (1999)
1660
<1
<10
Severe
-
YES
France
-
Attali et al (1999)
1661
1.6
-
Moderate
-
China
-
Liu et al (2000)
1662
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
1663
<1
-
Severe
-
YES
Italy
-
Belvini et al (2005)
1665
<1
-
Severe
-
-
Centre B39 (unpublished)
1667
<1
-
Severe
-
-
Centre B21 (unpublished)
1668
1.3
-
Moderate
-
-
Centre B21 (unpublished)
1669
<1
-
Severe
-
-
Centre B9 (unpublished)
1670
<1
-
Severe
-
-
Centre B38 (unpublished)
1671
<1
-
Severe
-
Germany
-
Wulff et al (1999)
1672
-
-
-
-
Centre B39 (unpublished)
1673
-
-
-
-
Centre B39 (unpublished)
1674
2.9
-
Moderate
-
-
Centre B36 (unpublished)
1676
-
-
Sporadic
Severe
-
Ireland
-
Jenkins et al (2008)
1678
<1
<1
Severe
-
United States
-
Bottema et al (1990A)
3753
<1
Severe
United Kingdom
Green et al (1992)
3735
United States
Gostout et al (1993)
3458
-
-
severe
-
-
Centre B38 (unpublished)
3459
<1
<1
Severe
-
United Kingdom
-
Green et al (1991)
3460
0
-
Severe
-
NO
Italy
-
Belvini et al (2005)
3461
-
-
Severe
-
NO
Italy
-
Belvini et al (2005)
3464
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
3595
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
3631
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
3632
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
3699
-
-
Severe
-
NO
United States
-
Miller et al (2012)
3700
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
4593
<1
Severe
United States
Johnsen et al (2017)
4594
<1
Severe
YES
United States
Johnsen et al (2017)
4595
<1
Severe
NO
United States
Johnsen et al (2017)
4596
<1
Severe
NO
United States
Johnsen et al (2017)
4597
<1
Severe
NO
United States
Johnsen et al (2017)
4598
<1
Severe
YES
United States
Johnsen et al (2017)
4599
<1
Severe
NO
United States
Johnsen et al (2017)
4600
<1
Severe
NO
United States
Johnsen et al (2017)
4601
<1
Severe
NO
United States
Johnsen et al (2017)
4602
1
Moderate
NO
United States
Johnsen et al (2017)
4603
<1
Severe
NO
United States
Johnsen et al (2017)
4604
<1
Severe
NO
United States
Johnsen et al (2017)
4605
<1
Severe
NO
United States
Johnsen et al (2017)
4606
<1
Severe
NO
United States
Johnsen et al (2017)
4607
<1
Severe
United States
Johnsen et al (2017)
4608
<1
Severe
NO
United States
Johnsen et al (2017)
4609
<1
Severe
NO
United States
Johnsen et al (2017)
4610
<1
Severe
NO
United States
Johnsen et al (2017)
4611
<1
Severe
NO
United States
Johnsen et al (2017)
4612
<1
Severe
YES
United States
Johnsen et al (2017)
4613
<1
Severe
NO
United States
Johnsen et al (2017)
  c.880C>G
p.(Arg294Gly) Legacy AA 248
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
880
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
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
1677
<1
-
Severe
-
Germany
-
Wulff et al (1995)
  c.881G>A
p.(Arg294Gln) Legacy AA 248
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
881
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
140
No. of bases:
1
Allele Frequency (MAF):
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
1679
2
3
Moderate
II
United States
-
Koeberl et al (1990B)
1680
3
4
Moderate
I
United States
-
Chen et al (1989b)
1681
1
1
Moderate
I
United States
-
Chen et al (1991a)
1682
4
3
Moderate
I
United States
-
Chen et al (1989b)
1683
2
2
Sporadic
Moderate
I
United States
-
Chen et al (1995)
1684
3
2
Familial
Moderate
I
United States
-
Chen et al (1995)
1685
3
4
Moderate
I
Germany
-
Ludwig et al (1992B)
1686
3
2
Moderate
I
United States
-
Koeberl et al (1990B)
1687
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
1688
3
-
Moderate
-
Italy
-
Belvini et al (2005)
1689
-
-
-
United Kingdom
-
Saad et al (1994)
1690
<1
<1
Severe
-
NO
Italy
-
Bicocchi et al (2006)
1691
3
<10
Moderate
-
Canada
-
Poon et al (1993)
1692
6
9
Mild
II
Canada
-
Poon et al (1993)
1693
6
3
Mild
I
United States
-
Bottema et al (1991)
1694
4
-
Moderate
-
Turkey
-
Onay et al (2003)
1695
0.2
-
Severe
-
Turkey
-
Onay et al (2003)
1696
15
-
Mild
-
United States
-
Bottema et al (1991)
1697
3
3
Moderate
I
United States
-
Thompson and Chen (1992)
1698
-
-
-
Turkey
-
Caglayan et al (1994)
1699
10
-
Mild
-
Portugal
-
David et al (1993)
1700
3
-
Moderate
-
United Kingdom
-
Saad et al (1994)
1701
7
-
Mild
-
United Kingdom
-
Saad et al (1994)
1702
4
19
Moderate
II
United Kingdom
-
Saad et al (1994)
1703
5.5
-
Moderate
-
France
-
Ghanem et al (1993)
1704
-
-
-
Denmark
-
Nielsen et al (1995)
1705
-
-
Moderate
-
Germany
-
Wulff et al (1995)
1706
2
1.7
Moderate
I
United States
-
Bottema et al (1993)
1707
6
<6
Mild
I
United States
-
Bottema et al (1993)
1708
5
1.7
Moderate
I
United States
-
Bottema et al (1993)
1709
-
-
Moderate
-
United States
-
Bottema et al (1993)
1710
2
1.5
Moderate
I
United States
-
Bottema et al (1993)
1711
2
-
Moderate
-
-
Centre B30 (unpublished)
1712
2
-
Moderate
-
United States
-
Thorland et al (1995)
1713
4
-
Moderate
-
-
Centre B30 (unpublished)
1714
5
-
Moderate
-
-
Centre B30 (unpublished)
1715
<1
-
Severe
-
-
Centre B12 (unpublished)
1716
3
-
Moderate
-
United States
-
Thorland et al (1995)
1717
-
-
-
-
Centre B30 (unpublished)
1718
2
-
Moderate
-
-
Centre B35 (unpublished)
1719
3
-
Moderate
-
United States
-
Thorland et al (1995)
1720
2
-
Moderate
-
United States
-
Thorland et al (1995)
1721
5
-
Moderate
-
Germany
-
Wulff et al (2001)
1722
1
-
Moderate
-
-
Centre B30 (unpublished)
1723
3
-
Moderate
-
France
-
Costa et al (2000)
1724
-
-
-
-
Centre B17 (unpublished)
1725
9
-
Mild
-
-
Centre B30 (unpublished)
1726
1
-
Moderate
-
-
Centre B12 (unpublished)
1727
2
<6
Moderate
-
-
Centre B22 (unpublished)
1728
1
1
Moderate
I
United States
-
Weinmann et al (1998)
1729
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
1730
-
-
-
-
Centre B30 (unpublished)
1731
7
-
Mild
-
-
Centre B35 (unpublished)
1732
7
-
Mild
-
-
Centre B35 (unpublished)
1733
-
-
-
-
Centre B8 (unpublished)
1734
<1
<1
Severe
-
Sweden
-
Ljung et al (2001)
1735
4
<10
Moderate
-
-
Centre B14 (unpublished)
1736
-
-
-
Spain
-
Montejo et al (1999)
1737
3
4
Moderate
I
-
Centre B14 (unpublished)
1738
3.5
-
Moderate
-
-
Centre B13 (unpublished)
1739
3
-
Moderate
-
NO
France
-
Attali et al (1999)
1740
6
<10
Mild
-
NO
France
-
Attali et al (1999)
1741
11
5
Mild
I
NO
France
-
Attali et al (1999)
1742
5
-
Moderate
-
-
Centre B39 (unpublished)
1743
4
-
Moderate
-
Spain
-
Vidal et al (2000)
1744
<1
-
Severe
-
-
Centre B36 (unpublished)
1745
<1
-
Severe
-
-
Centre B36 (unpublished)
1746
<1
-
Severe
-
-
Centre B36 (unpublished)
1747
<1
-
Severe
-
-
Centre B36 (unpublished)
1748
3
-
Moderate
-
-
Centre B13 (unpublished)
1749
-
-
-
-
Centre B21 (unpublished)
1750
4.5
-
Moderate
-
-
Centre B21 (unpublished)
1751
-
2
-
-
Centre B38 (unpublished)
1752
3
-
Moderate
-
-
Centre B38 (unpublished)
1753
-
-
-
-
Centre B39 (unpublished)
1754
-
-
-
-
Centre B39 (unpublished)
1755
-
-
-
-
Centre B39 (unpublished)
1756
-
-
-
-
Centre B39 (unpublished)
1757
-
-
-
-
Centre B39 (unpublished)
1758
6.1
-
Mild
-
-
Centre B36 (unpublished)
1759
0
-
Severe
-
-
Centre B36 (unpublished)
1761
-
-
-
-
Centre B36 (unpublished)
1763
1.3
-
Moderate
-
-
Centre B36 (unpublished)
1764
1.8
-
Moderate
-
-
Centre B36 (unpublished)
1765
2 to 5
-
Moderate
-
-
Centre B13 (unpublished)
1766
2.5
2
Moderate
I
-
Centre B13 (unpublished)
1767
3
-
Moderate
-
-
Centre B38 (unpublished)
1768
2.4
-
Moderate
-
-
Centre B5 (unpublished)
1769
<1
-
Severe
-
United Kingdom
-
Enayat et al (2004)
3498
3.5
-
Familial
Moderate
-
NO
Argentina
-
Radic et al (2013)
3499
12
-
Familial
Mild
-
NO
Argentina
-
Radic et al (2013)
3596
-
-
Familial
Moderate
-
NO
China
-
Yu et al (2012)
3633
-
-
Familial
Moderate
-
NO
China
-
Yu et al (2012)
3634
-
-
Familial
Moderate
-
NO
China
-
Yu et al (2012)
3675
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
4124
3
Moderate
NO
United States
Johnsen et al (2017)
4125
1
Moderate
NO
United States
Johnsen et al (2017)
4126
3
Moderate
United States
Johnsen et al (2017)
4127
2
Moderate
NO
United States
Johnsen et al (2017)
4128
3
Moderate
NO
United States
Johnsen et al (2017)
4129
7
Mild
NO
United States
Johnsen et al (2017)
4130
<1
Severe
NO
United States
Johnsen et al (2017)
4131
6
Mild
United States
Johnsen et al (2017)
4132
3
Moderate
NO
United States
Johnsen et al (2017)
4133
4.6
Moderate
United States
Johnsen et al (2017)
4134
2
Moderate
NO
United States
Johnsen et al (2017)
4135
7
Mild
NO
United States
Johnsen et al (2017)
4136
2
Moderate
NO
United States
Johnsen et al (2017)
4137
3
Moderate
NO
United States
Johnsen et al (2017)
4138
4.5
Moderate
NO
United States
Johnsen et al (2017)
4139
2
Moderate
NO
United States
Johnsen et al (2017)
4140
2
Moderate
NO
United States
Johnsen et al (2017)
4141
2
Moderate
NO
United States
Johnsen et al (2017)
4142
4.5
Moderate
NO
United States
Johnsen et al (2017)
4143
2
Moderate
NO
United States
Johnsen et al (2017)
4144
3
Moderate
NO
United States
Johnsen et al (2017)
4145
<1
Severe
NO
United States
Johnsen et al (2017)
4146
3
Moderate
United States
Johnsen et al (2017)
4147
3
Moderate
NO
United States
Johnsen et al (2017)
4148
3
Moderate
NO
United States
Johnsen et al (2017)
4149
2
Moderate
NO
United States
Johnsen et al (2017)
4150
4
Moderate
NO
United States
Johnsen et al (2017)
4151
2.8
Moderate
NO
United States
Johnsen et al (2017)
4152
3
Moderate
NO
United States
Johnsen et al (2017)
4153
3
Moderate
NO
United States
Johnsen et al (2017)
4154
4.7
Moderate
NO
United States
Johnsen et al (2017)
4155
3
Moderate
NO
United States
Johnsen et al (2017)
4156
2
Moderate
NO
United States
Johnsen et al (2017)
4157
3.7
Moderate
NO
United States
Johnsen et al (2017)
4158
<1
Severe
NO
United States
Johnsen et al (2017)
4159
4
Moderate
NO
United States
Johnsen et al (2017)
4160
3
Moderate
NO
United States
Johnsen et al (2017)
4161
4
Moderate
NO
United States
Johnsen et al (2017)
4162
3
Moderate
NO
United States
Johnsen et al (2017)
4163
3
Moderate
NO
United States
Johnsen et al (2017)
4164
2
Moderate
United States
Johnsen et al (2017)
4165
4
Moderate
NO
United States
Johnsen et al (2017)
4166
3
Moderate
NO
United States
Johnsen et al (2017)
4167
4
Moderate
United States
Johnsen et al (2017)
4168
<1
Severe
NO
United States
Johnsen et al (2017)
  c.881G>T
p.(Arg294Leu) Legacy AA 248
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
881
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
12
No. of bases:
1
Allele Frequency (MAF):
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
3676
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
4169
3
Moderate
NO
United States
Johnsen et al (2017)
4170
1
Moderate
NO
United States
Johnsen et al (2017)
4171
1.9
Moderate
NO
United States
Johnsen et al (2017)
4172
2
Moderate
NO
United States
Johnsen et al (2017)
4173
<1
Severe
NO
United States
Johnsen et al (2017)
4174
3
Moderate
NO
United States
Johnsen et al (2017)
4175
1.8
Moderate
United States
Johnsen et al (2017)
4176
2
Moderate
NO
United States
Johnsen et al (2017)
4177
1.6
Moderate
United States
Johnsen et al (2017)
4178
3
Moderate
United States
Johnsen et al (2017)
4179
2
Moderate
NO
United States
Johnsen et al (2017)
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