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F9
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Search Results: 6 unique variants retrieved

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  c.1301_1302dup
p.(Cys435*) Legacy AA 389
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1303
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2943
1
<1
Moderate
I
NO
France
-
Attali et al (1999)
  c.1303T>C
p.(Cys435Arg) Legacy AA 389
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1303
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
3551
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
  c.1303T>G
p.(Cys435Gly) Legacy AA 389
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1303
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
2728
<1
-
Severe
-
-
Centre B30 (unpublished)
3626
-
-
Moderate
-
NO
China
-
Yu et al (2012)
  c.1303T>A
p.(Cys435Ser) Legacy AA 389
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1303
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
2727
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
  c.1304G>A
p.(Cys435Tyr) Legacy AA 389
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1304
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
2729
<1
<1
Severe
-
-
Centre B23 (unpublished)
2730
4
7
Moderate
II
United Kingdom
-
Saad et al (1994)
2731
35
-
Mild
-
France
-
Tartary et al (1993)
2732
<1
<1
Severe
-
Denmark
-
Nielsen et al (1995)
2733
<1
2
Severe
II
Denmark
-
Nielsen et al (1995)
2734
3
-
Moderate
-
-
Centre B30 (unpublished)
2735
<1
5
Severe
II
Germany
-
Wulff et al (1999)
2736
<1
-
Severe
-
Germany
-
Wulff et al (2001)
2737
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
2738
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
3692
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4478
<1
Severe
NO
United States
Johnsen et al (2017)
4479
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1304G>T
p.(Cys435Tyr) Legacy AA 389
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1304
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
3434
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
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