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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: 4 unique variants retrieved

  1. «
  2. 1
  3. »
  c.316G>C
p.(Gly106Arg) Legacy AA 60
Variant Type:
Point
Domain:
EGF1
cDNA number:
316
Variant Effect:
Missense
Location:
Exon(4)
CpG:
Y
No. of cases reported:
2
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
716
<1
6
Severe
II
United States
-
Bottema et al (1991)
3666
-
-
Severe
-
NO
United States
-
Miller et al (2012)
  c.316G>T
p.(Gly106Cys) Legacy AA 60
Variant Type:
Point
Domain:
EGF1
cDNA number:
316
Variant Effect:
Missense
Location:
Exon(4)
CpG:
Y
No. of cases reported:
2
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
717
<1
-
Severe
-
-
Centre B30 (unpublished)
718
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
  c.316G>A
p.(Gly106Ser) Legacy AA 60
Variant Type:
Point
Domain:
EGF1
cDNA number:
316
Variant Effect:
Missense
Location:
Exon(4)
CpG:
Y
No. of cases reported:
150
No. of bases:
1
Allele Frequency (MAF):
2.44E-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
3733
United States
Denton et al (1988)
645
14
-
Mild
-
United States
-
Denton et al (1988)
646
10
11
Mild
I
United States
-
Koeberl et al (1990B)
647
13
34
Mild
II
-
Centre B26 (unpublished)
648
12
31
Mild
II
Netherlands
-
Poort et al (1989)
649
17
22
Mild
I
-
Centre B26 (unpublished)
650
10
-
Mild
-
United Kingdom
-
Green et al (1990)
651
11
19
Mild
II
United States
-
Chen et al (1989b)
652
10
18
Mild
II
United States
-
Chen et al (1991a)
653
17
30
Mild
II
United States
-
Chen et al (1989b)
654
15
54
Mild
II
United States
-
Chen et al (1991a)
655
10
28
Mild
II
United Kingdom
-
Winship and Dragon (1991)
656
14
35
Mild
II
United States
-
Koeberl et al (1989)
657
16
41
Mild
II
United States
-
Koeberl et al (1989)
658
13
30
Mild
II
United States
-
Thompson and Chen (1992)
659
17
-
Mild
-
United States
-
Ketterling et al (1991B)
660
12
32
Mild
II
United States
-
Ketterling et al (1991B)
661
5
-
Moderate
-
United States
-
Ketterling et al (1991B)
662
10
-
Mild
-
United States
-
Ketterling et al (1991B)
663
15
-
Mild
-
United States
-
Ketterling et al (1991B)
664
22
23
Mild
I
United States
-
Ketterling et al (1991B)
665
9
20
Mild
II
United States
-
Ketterling et al (1991B)
666
15
20
Mild
I
United States
-
Ketterling et al (1991B)
667
16
-
Mild
-
United States
-
Ketterling et al (1991B)
668
9
-
Mild
-
United States
-
Ketterling et al (1991B)
669
11
31
Mild
II
United States
-
Thompson et al (1992A)
670
15
30
Mild
II
United States
-
Thompson et al (1992A)
672
9
31
Mild
II
Canada
-
Poon et al (1993)
673
13
30
Mild
II
Canada
-
Poon et al (1993)
674
17
21
Mild
I
France
-
Tartary et al (1993)
675
25
32
Mild
I
United States
-
Bottema et al (1993)
676
7
33
Mild
II
United States
-
Bottema et al (1993)
677
7
23.5
Mild
II
United States
-
Bottema et al (1993)
678
8
26
Mild
II
United States
-
Bottema et al (1993)
679
6
-
Mild
-
United Kingdom
-
Saad et al (1994)
680
9
-
Mild
-
United Kingdom
-
Saad et al (1994)
681
17
-
Mild
-
United Kingdom
-
Saad et al (1994)
682
13
-
Mild
-
United Kingdom
-
Saad et al (1994)
684
31
-
Mild
-
-
Centre B30 (unpublished)
685
-
-
-
-
Centre B30 (unpublished)
686
76
72
Mild
I
-
Centre B30 (unpublished)
687
36
-
Mild
-
-
Centre B30 (unpublished)
688
8
-
Mild
-
-
Centre B30 (unpublished)
689
14
-
Mild
-
-
Centre B30 (unpublished)
690
20
-
Mild
-
-
Centre B30 (unpublished)
691
-
-
-
-
Centre B30 (unpublished)
692
8
-
Mild
-
United States
-
Thorland et al (1995)
693
7
-
Mild
-
-
Centre B30 (unpublished)
694
21
-
Mild
-
-
Centre B30 (unpublished)
695
-
-
-
-
Centre B30 (unpublished)
696
-
-
-
United States
-
Weinmann et al (1998)
697
17
21
Mild
I
-
Centre B20 (unpublished)
698
6
-
Mild
-
United States
-
Weinmann et al (1998)
699
12
-
Mild
-
-
Centre B30 (unpublished)
700
11
-
Mild
-
-
Centre B13 (unpublished)
701
-
-
-
United States
-
Heit et al (1998)
702
10
27
Mild
II
-
Centre B38 (unpublished)
703
6
28
Mild
II
-
Centre B38 (unpublished)
704
10
10
Mild
I
-
Centre B13 (unpublished)
705
20
-
Mild
-
-
Centre B25 (unpublished)
706
<1
-
Severe
-
-
Centre B36 (unpublished)
707
-
-
-
-
Centre B38 (unpublished)
708
11
4
Mild
I
-
Centre B38 (unpublished)
709
-
-
-
-
Centre B39 (unpublished)
710
15
-
Mild
-
-
Centre B36 (unpublished)
711
7
-
Mild
-
-
Centre B36 (unpublished)
714
-
-
Mild
-
Italy
-
Belvini et al (2005)
715
20
-
Mild
-
-
Centre B38 (unpublished)
3764
12
Mild
Ireland
5 cases in 4 families (FIX:C range 10-16)
Jenkins et al (2008)
3457
-
-
-
-
Centre B30 (unpublished)
3489
11
-
Sporadic
Mild
-
NO
Argentina
-
Radic et al (2013)
3664
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
3665
-
-
Mild
-
NO
United States
-
Miller et al (2012)
3925
15
Mild
NO
United States
Johnsen et al (2017)
3926
18
Mild
NO
United States
Johnsen et al (2017)
3927
3
Moderate
NO
United States
Johnsen et al (2017)
3928
5.1
Mild
United States
Johnsen et al (2017)
3929
6
Mild
NO
United States
Johnsen et al (2017)
3930
14.77
Mild
NO
United States
Johnsen et al (2017)
3931
12
Mild
United States
Johnsen et al (2017)
3932
18
Mild
NO
United States
Johnsen et al (2017)
3933
10
Mild
United States
Johnsen et al (2017)
3934
18
Mild
NO
United States
Johnsen et al (2017)
3935
21
Mild
NO
United States
Johnsen et al (2017)
3936
10
Mild
NO
United States
Johnsen et al (2017)
3937
15
Mild
NO
United States
Johnsen et al (2017)
3938
13
Mild
NO
United States
Johnsen et al (2017)
3939
10
Mild
NO
United States
Johnsen et al (2017)
3940
7
Mild
NO
United States
Johnsen et al (2017)
3941
10
Mild
NO
United States
Johnsen et al (2017)
3942
8
Mild
NO
United States
Johnsen et al (2017)
3943
11
Mild
NO
United States
Johnsen et al (2017)
3944
12
Mild
NO
United States
Johnsen et al (2017)
3945
15
Mild
NO
United States
Johnsen et al (2017)
3946
15
Mild
NO
United States
Johnsen et al (2017)
3947
9
Mild
NO
United States
Johnsen et al (2017)
3948
11.5
Mild
NO
United States
Johnsen et al (2017)
3949
8
Mild
United States
Johnsen et al (2017)
3950
15
Mild
NO
United States
Johnsen et al (2017)
3951
13
Mild
NO
United States
Johnsen et al (2017)
3952
10
Mild
United States
Johnsen et al (2017)
3953
20
Mild
NO
United States
Johnsen et al (2017)
3954
8
Mild
NO
United States
Johnsen et al (2017)
3955
11
Mild
NO
United States
Johnsen et al (2017)
3956
25
Mild
NO
United States
Johnsen et al (2017)
3957
15
Mild
NO
United States
Johnsen et al (2017)
3958
4
Moderate
NO
United States
Johnsen et al (2017)
3959
8
Mild
NO
United States
Johnsen et al (2017)
3960
8
Mild
NO
United States
Johnsen et al (2017)
3961
8
Mild
NO
United States
Johnsen et al (2017)
3962
17
Mild
NO
United States
Johnsen et al (2017)
3963
15
Mild
NO
United States
Johnsen et al (2017)
3964
8
Mild
NO
United States
Johnsen et al (2017)
3965
15
Mild
NO
United States
Johnsen et al (2017)
3966
30
Mild
NO
United States
Johnsen et al (2017)
3967
16
Mild
United States
Johnsen et al (2017)
3968
11
Mild
NO
United States
Johnsen et al (2017)
3969
25
Mild
NO
United States
Johnsen et al (2017)
3970
3
Moderate
United States
Johnsen et al (2017)
3971
19
Mild
NO
United States
Johnsen et al (2017)
3972
7
Mild
NO
United States
Johnsen et al (2017)
3973
13
Mild
United States
Johnsen et al (2017)
3974
12
Mild
NO
United States
Johnsen et al (2017)
3975
13
Mild
NO
United States
Johnsen et al (2017)
3976
8
Mild
NO
United States
Johnsen et al (2017)
3977
7
Mild
NO
United States
Johnsen et al (2017)
3978
14
Mild
United States
Johnsen et al (2017)
3979
8
Mild
NO
United States
Johnsen et al (2017)
3980
13
Mild
NO
United States
Johnsen et al (2017)
3981
13
Mild
NO
United States
Johnsen et al (2017)
3982
15
Mild
NO
United States
Johnsen et al (2017)
3983
8
Mild
NO
United States
Johnsen et al (2017)
3984
13
Mild
NO
United States
Johnsen et al (2017)
3985
13
Mild
NO
United States
Johnsen et al (2017)
3986
7
Mild
NO
United States
Johnsen et al (2017)
3987
11
Mild
NO
United States
Johnsen et al (2017)
3988
17
Mild
United States
Johnsen et al (2017)
3989
14
Mild
NO
United States
Johnsen et al (2017)
3990
8
Mild
NO
United States
Johnsen et al (2017)
3991
14
Mild
NO
United States
Johnsen et al (2017)
3992
10
Mild
NO
United States
Johnsen et al (2017)
3993
17
Mild
NO
United States
Johnsen et al (2017)
3994
6
Mild
NO
United States
Johnsen et al (2017)
3995
9
Mild
NO
United States
Johnsen et al (2017)
3996
10
Mild
NO
United States
Johnsen et al (2017)
3997
7
Mild
NO
United States
Johnsen et al (2017)
3998
10
Mild
United States
Johnsen et al (2017)
3999
11
Mild
NO
United States
Johnsen et al (2017)
4000
12
Mild
NO
United States
Johnsen et al (2017)
4001
13
Mild
NO
United States
Johnsen et al (2017)
  c.317G>A
p.(Gly106Asp) Legacy AA 60
Variant Type:
Point
Domain:
EGF1
cDNA number:
317
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
4
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
719
1
2
Moderate
II
United States
-
Koeberl et al (1990B)
720
3
-
Moderate
-
Turkey
-
Onay et al (2003)
3667
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4002
<1
Severe
NO
United States
Johnsen et al (2017)
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