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F9
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Search Results: 6 unique variants retrieved

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  c.870dupA
p.(Glu291Argfs*21) Legacy AA 245
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
870
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
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
1601
<1
-
Sporadic
Severe
-
Jordan
-
Awidi et al (2011)
  c.871G>T
p.(Glu291*) Legacy AA 245
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
871
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1607
-
-
-
-
Centre B13 (unpublished)
  c.871G>A
p.(Glu291Lys) Legacy AA 245
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
871
Variant Effect:
Missense
Location:
Exon(8)
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
1602
-
-
-
Germany
-
Wulff et al (2001)
1603
<1
-
Severe
-
Italy
-
Belvini et al (2005)
1605
-
-
-
-
Centre B39 (unpublished)
1606
2
74
Moderate
II
-
Centre B27 (unpublished)
  c.872A>G
p.(Glu291Gly) Legacy AA 245
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
872
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
1608
12
-
Mild
-
Italy
-
Belvini et al (2005)
1611
3
110
Moderate
II
-
Centre B14 (unpublished)
3441
4.2
-
Moderate
-
NO
Italy
-
Belvini et al (2005)
  c.872A>T
p.(Glu291Val) Legacy AA 245
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
872
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
1612
3
39
Moderate
II
Germany
-
Ludwig et al (1992B)
  c.873G>T
p.(Glu291Asp) Legacy AA 245
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
873
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
1613
6
-
Mild
-
-
Centre B39 (unpublished)
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