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Factor IX Gene (F9) Variant Database  

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: 6 unique variants retrieved

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  c.1219T>C
p.(Cys407Arg) Legacy AA 361
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1219
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
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
2556
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2557
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2558
<1
<1
Severe
-
-
Centre B7 (unpublished)
2559
-
-
Sporadic
Severe
-
Ireland
-
Jenkins et al (2008)
2560
5
-
Moderate
-
Turkey
-
Onay et al (2003)
3621
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3686
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4447
<1
Severe
United States
Johnsen et al (2017)
  c.1219T>G
p.(Cys407Gly) Legacy AA 361
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1219
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
2561
<1
25
Severe
II
Germany
-
Wulff et al (1999)
4445
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1219T>A
p.(Cys407Ser) Legacy AA 361
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1219
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
2553
<1
-
Severe
-
-
Centre B30 (unpublished)
2554
<1
-
Severe
-
-
Centre B35 (unpublished)
2555
<1
-
Severe
-
Germany
-
Wulff et al (1995)
4446
<1
Severe
United States
Johnsen et al (2017)
  c.1220G>T
p.(Cys407Phe) Legacy AA 361
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1220
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
2565
-
-
-
China
-
Liu et al (2000)
  c.1220delG
p.(Cys407Phefs*19) Legacy AA 361
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1220
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
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 (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
4831
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1220G>A
p.(Cys407Tyr) Legacy AA 361
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1220
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
2562
0.5
-
Severe
-
Italy
-
Belvini et al (2005)
2564
-
-
-
-
Centre B30 (unpublished)
4448
<1
Severe
NO
United States
Johnsen et al (2017)
4449
<1
Severe
NO
United States
Johnsen et al (2017)
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