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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 4 unique variants retrieved

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  c.334_335del
p.(Ile112*) Legacy AA 66
Variant Type:
Deletion
Domain:
EGF1
cDNA number:
334
Variant Effect:
Frameshift
Location:
Exon(4)
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 (Deletion | Frameshift) of variant at Exon 4.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3091
<1
<1
Severe
-
India
-
Quadros et al, (2009)
  c.335T>A
p.(Ile112Asn) Legacy AA 66
Variant Type:
Point
Domain:
EGF1
cDNA number:
335
Variant Effect:
Missense
Location:
Exon(4)
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
734
26
-
Mild
-
United Kingdom
-
Enayat et al (2004)
  c.335T>G
p.(Ile112Ser) Legacy AA 66
Variant Type:
Point
Domain:
EGF1
cDNA number:
335
Variant Effect:
Missense
Location:
Exon(4)
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
738
-
-
-
Spain
-
Montejo et al (1999)
  c.335T>C
p.(Ile112Thr) Legacy AA 66
Variant Type:
Point
Domain:
EGF1
cDNA number:
335
Variant Effect:
Missense
Location:
Exon(4)
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
735
5
-
Moderate
-
-
Centre B7 (unpublished)
736
30
-
Mild
-
France
-
Ghanem et al (1993)
737
20
91
Mild
II
France
-
Tartary et al (1993)
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