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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: 1 unique variants retrieved.

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  c.835G>A
p.(Ala279Thr) Legacy AA 233
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
835
Variant Effect:
Missense
Location:
Exon(7)
CpG:
Y
No. of cases reported:
94
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
3742
12
Mild
United Kingdom
Green et al (1990)
3781
14
-
Mild
-
Spain
-
Montejo et al (1999)
3780
-
-
-
-
Spain
-
Montejo et al (1999)
3782
6
16
Mild
II
Spain
-
Montejo et al (1999)
3741
5-22
12
Mild
I
United Kingdom
Green et al (1990)
1508
22
-
Mild
-
United Kingdom
-
Green et al (1991)
1509
5 to 22
12
Mild
-
United Kingdom
-
Green et al (1991)
1510
8 to 15
-
Mild
-
United Kingdom
-
Green et al (1991)
1511
11
15
Mild
I
United Kingdom
-
Green et al (1991)
1512
12
12
Mild
I
-
Centre B23 (unpublished)
1513
15
-
Mild
-
Canada
-
Tam et al (1991)
1514
10
11
Mild
I
United States
-
Chen et al (1991a)
1515
15
15
Mild
I
United States
-
Chen et al (1991a)
1516
16
-
Mild
-
Sweden
-
Ljung et al (2001)
1517
15
-
Mild
-
United Kingdom
-
Saad et al (1994)
1518
12
-
Mild
-
United Kingdom
-
Saad et al (1994)
1519
9
-
Mild
-
-
Centre B30 (unpublished)
1520
13
-
Mild
-
-
Aguilar-Martinez et al (1994B)
1521
11
-
Mild
-
France
-
Tartary et al (1993)
1522
20
3
Mild
I
France
-
Tartary et al (1993)
1523
7
-
Mild
-
New Zealand
-
Van de Water et al (1996)
1524
9
15
Sporadic
Mild
II
United States
-
Chen et al (1995)
1525
8.5
-
Sporadic
Mild
-
India
-
Jayandharan et al (2005)
1526
6.5
-
Sporadic
Mild
-
India
-
Jayandharan et al (2005)
1527
-
-
-
-
Centre B30 (unpublished)
1528
18
-
Mild
-
-
Centre B30 (unpublished)
1529
21
-
Mild
-
-
Centre B1 (unpublished)
1530
13
-
Mild
-
-
Centre B35 (unpublished)
1531
16
-
Mild
-
-
Centre B30 (unpublished)
1532
-
-
-
-
Centre B30 (unpublished)
1533
1.5
-
Moderate
-
Italy
-
Belvini et al (2005)
1534
-
-
-
-
Centre B30 (unpublished)
1535
10
-
Mild
-
-
Centre B12 (unpublished)
1536
<1
<1
Severe
-
Sweden
-
Ljung et al (2001)
1537
5
-
Moderate
-
-
Centre B13 (unpublished)
1538
13
10
Mild
I
Spain
-
Montejo et al (1999)
1539
11
-
Mild
-
Spain
-
Montejo et al (1999)
1540
-
-
-
Germany
-
Wulff and Herrmann (1999)
1541
-
22
-
-
Centre B38 (unpublished)
1542
5
9
Moderate
II
-
Centre B38 (unpublished)
1543
10
-
Mild
-
-
Centre B13 (unpublished)
1544
17
13
Mild
I
NO
France
-
Attali et al (1999)
1545
27
-
Mild
-
NO
France
-
Attali et al (1999)
1546
11
-
Mild
-
NO
France
-
Attali et al (1999)
1547
8
8
Mild
I
NO
France
-
Attali et al (1999)
1548
4
-
Moderate
-
NO
France
-
Attali et al (1999)
1549
5
16
Moderate
II
NO
France
-
Attali et al (1999)
1550
11
-
Mild
-
NO
France
-
Attali et al (1999)
1551
11
14
Mild
I
NO
France
-
Attali et al (1999)
1552
13
-
Mild
-
NO
France
-
Attali et al (1999)
1553
9
11
Mild
I
NO
France
-
Attali et al (1999)
1554
15
15
Mild
I
NO
France
-
Attali et al (1999)
1555
8
-
Mild
-
NO
France
-
Attali et al (1999)
1556
14
14
Mild
I
NO
France
-
Attali et al (1999)
1557
7
-
Mild
-
United States
-
Li et al (2000)
1558
13
14
Mild
I
-
Centre B25 (unpublished)
1559
17
-
Mild
-
-
Centre B25 (unpublished)
1560
10 to 14
-
Mild
-
-
Centre B25 (unpublished)
1561
10
-
Mild
-
-
Centre B25 (unpublished)
1562
21
-
Mild
-
-
Centre B25 (unpublished)
1563
13
-
Mild
-
-
Centre B25 (unpublished)
1564
11
-
Mild
-
-
Centre B25 (unpublished)
1565
15
25
Mild
II
-
Centre B25 (unpublished)
1566
14
-
Mild
-
-
Centre B25 (unpublished)
1567
11
-
Mild
-
-
Centre B25 (unpublished)
1568
15
-
Mild
-
-
Centre B25 (unpublished)
1569
18
-
Mild
-
-
Centre B25 (unpublished)
1572
10
-
Mild
-
-
Centre B25 (unpublished)
1573
11
10
Mild
I
-
Centre B25 (unpublished)
1574
11
-
Mild
-
-
Centre B25 (unpublished)
1575
13
-
Mild
-
-
Centre B25 (unpublished)
1576
13
-
Mild
-
-
Centre B25 (unpublished)
1577
-
-
-
-
Centre B25 (unpublished)
1578
20
-
Mild
-
-
Centre B25 (unpublished)
1579
12
-
Mild
-
United States
-
Koeberl et al (1989)
3743
11
15
Mild
I
United Kingdom
Green et al (1990)
3744
22
Mild
United Kingdom
Green et al (1990)
3438
0
-
Severe
-
NO
Italy
-
Belvini et al (2005)
3497
10
-
Familial
Mild
-
NO
Argentina
-
Radic et al (2013)
4105
6
Mild
NO
United States
Johnsen et al (2017)
4106
11
Mild
United States
Johnsen et al (2017)
4107
8.67
Mild
NO
United States
Johnsen et al (2017)
4108
6
Mild
NO
United States
Johnsen et al (2017)
4109
7
Mild
NO
United States
Johnsen et al (2017)
4110
8
Mild
NO
United States
Johnsen et al (2017)
4111
12
Mild
NO
United States
Johnsen et al (2017)
4112
11
Mild
NO
United States
Johnsen et al (2017)
4113
9
Mild
NO
United States
Johnsen et al (2017)
4114
6
Mild
NO
United States
Johnsen et al (2017)
4115
18
Mild
NO
United States
Johnsen et al (2017)
4116
15
Mild
United States
Johnsen et al (2017)
4117
8
Mild
United States
Johnsen et al (2017)
4118
7.7
Mild
NO
United States
Johnsen et al (2017)
4119
11
Mild
United States
Johnsen et al (2017)
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