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Factor IX Gene (F9) Variant Database  

F9
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MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 6 unique variants retrieved

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  c.400T>C
p.(Cys134Arg) Legacy AA 88
Variant Type:
Point
Domain:
EGF2
cDNA number:
400
Variant Effect:
Missense
Location:
Exon(5)
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
798
<1
24
Severe
II
Germany
-
Wulff et al (1999)
799
-
-
-
-
Centre B2 (unpublished)
801
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
806
<1
-
Severe
-
NO
Italy
-
Belvini et al (2005)
  c.400T>G
p.(Cys134Gly) Legacy AA 88
Variant Type:
Point
Domain:
EGF2
cDNA number:
400
Variant Effect:
Missense
Location:
Exon(5)
CpG:
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
802
<1
-
Severe
-
-
Centre B13 (unpublished)
803
<1
14
Severe
II
-
Centre B25 (unpublished)
  c.401_407delGTAACAT
p.(Cys134Leufs*67) Legacy AA 88
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
401
Variant Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of cases reported:
3
No. of bases:
7
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 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3094
2
2
Moderate
I
United States
-
Ketterling et al (1993A)
3643
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
4719
1.73
Moderate
NO
United States
Johnsen et al (2017)
  c.401G>T
p.(Cys134Phe) Legacy AA 88
Variant Type:
Point
Domain:
EGF2
cDNA number:
401
Variant Effect:
Missense
Location:
Exon(5)
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
807
-
-
-
Mexico
-
Jaloma-Cruz et al (2000)
  c.401G>C
p.(Cys134Ser) Legacy AA 88
Variant Type:
Point
Domain:
EGF2
cDNA number:
401
Variant Effect:
Missense
Location:
Exon(5)
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
804
<1
-
Severe
-
-
Centre B23 (unpublished)
805
<1
-
Severe
-
-
Centre B39 (unpublished)
3446
-
-
Severe
-
NO
Italy
-
Belvini et al (2005)
  c.401G>A
p.(Cys134Tyr) Legacy AA 88
Variant Type:
Point
Domain:
EGF2
cDNA number:
401
Variant Effect:
Missense
Location:
Exon(5)
CpG:
No. of cases reported:
6
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
793
<1
9
Severe
II
France
-
Tartary et al (1993)
794
<1
-
Severe
-
New Zealand
-
Van de Water et al (1996)
795
-
-
-
-
Centre B17 (unpublished)
796
1
-
Moderate
-
Mexico
-
Jaloma-Cruz et al (2000)
797
<1
-
Severe
-
-
Centre B24 (unpublished)
808
-
-
-
Turkey
-
Onay et al (2003)
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