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F9
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Search Results: 5 unique variants retrieved

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  c.1240C>T
p.(Pro414Ser) Legacy AA 368
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1240
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
5.5E-6
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
2620
<1
-
Severe
-
-
Centre B39 (unpublished)
  c.1240C>A
p.(Pro414Thr) Legacy AA 368
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1240
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
2610
<1
156
Severe
II
Netherlands
-
Bertina et al (1990)
2611
7
>100
Mild
II
Canada
-
Poon et al (1993)
2612
<1
-
Severe
-
-
Centre B37 (unpublished)
2613
2
115
Moderate
II
United States
-
Weinmann et al (1998)
2614
<1
-
Severe
-
-
Centre B35 (unpublished)
2615
<1
133
Severe
II
NO
France
-
Attali et al (1999)
2617
-
-
-
-
Centre B36 (unpublished)
2619
-
-
Severe
-
Italy
-
Belvini et al (2005)
3623
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3688
-
-
Severe
-
NO
United States
-
Miller et al (2012)
3689
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
4460
2
Moderate
NO
United States
Johnsen et al (2017)
4461
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1241C>G
p.(Pro414Arg) Legacy AA 368
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1241
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
2628
<1
-
Severe
-
India
-
Mahajan et al (2007)
  c.1241C>A
p.(Pro414His) Legacy AA 368
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1241
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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
2616
<1
-
Severe
-
-
Centre B36 (unpublished)
2621
<1
102
Severe
II
Germany
-
Wulff et al (1999)
3819
Germany
Wulff et al (2001)
  c.1241C>T
p.(Pro414Leu) Legacy AA 368
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1241
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
7
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
2622
-
-
-
United States
-
Bottema et al (1991)
2623
3
-
Moderate
-
United Kingdom
-
Saad et al (1994)
2624
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
2625
2
62
Moderate
II
Denmark
-
Nielsen et al (1992)
2626
-
-
Severe
-
Italy
-
Belvini et al (2005)
2627
-
100
-
-
Centre B38 (unpublished)
4462
<1
Severe
United States
Johnsen et al (2017)
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