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F9
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Data Display Options:
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MULTIPLE (With Case Data) :
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Search Results: 4 unique variants retrieved

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  c.1305_1306delTG
p.(Ala436Asnfs*19) Legacy AA 390
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1305
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
2
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
3149
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
4725
2
Moderate
NO
United States
Johnsen et al (2017)
  c.1306G>A
p.(Ala436Thr) Legacy AA 390
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1306
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
10
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
2739
<1
40
Severe
II
France
-
Tartary et al (1993)
2740
1
-
Moderate
-
New Zealand
-
Van de Water et al (1996)
2741
7
50
Mild
II
United States
-
Gostout et al (1993)
2742
<1
-
Severe
-
-
Centre B13 (unpublished)
2743
1
94
Moderate
II
-
Centre B35 (unpublished)
2744
<1
-
Severe
-
United States
-
Li et al (2000)
2745
-
-
-
-
Centre B21 (unpublished)
3538
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
4480
<1
Severe
NO
United States
Johnsen et al (2017)
4481
<1
Severe
United States
Johnsen et al (2017)
  c.1307C>A
p.(Ala436Glu) Legacy AA 390
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1307
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
2746
-
-
-
United Kingdom
-
Saad et al (1994)
2747
2
30
Moderate
II
United States
-
Wang et al (1990)
  c.1307C>T
p.(Ala436Val) Legacy AA 390
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1307
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
13
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
2748
<1
100
Severe
II
United States
-
Spitzer et al (1988)
2749
0
-
Severe
-
Italy
-
Belvini et al (2005)
2750
1 to 4
140
Moderate
II
Japan
-
Sugimoto et al (1988)
2751
2
48
Moderate
II
United States
-
Tarnower and Smith (1991)
2752
<1
71
Severe
II
United Kingdom
-
Saad et al (1994)
2753
1
-
Moderate
-
United States
-
Thorland et al (1995)
2754
<1
150
Severe
II
NO
France
-
Attali et al (1999)
2755
<1
-
Severe
-
China
-
Drost et al (2000)
3627
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
4482
<1
Severe
NO
United States
Johnsen et al (2017)
4483
<1
Severe
NO
United States
Johnsen et al (2017)
4484
<1
Severe
NO
United States
Johnsen et al (2017)
4485
<1
Severe
NO
United States
Johnsen et al (2017)
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