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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: 5 unique variants retrieved

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  c.412A>G
p.(Asn138Asp) Legacy AA 92
Variant Type:
Point
Domain:
EGF2
cDNA number:
412
Variant Effect:
Missense
Location:
Exon(5)
CpG:
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
823
-
-
-
Germany
-
Wulff et al (2001)
824
<1
-
Severe
-
India
-
Mahajan et al (2004)
825
<1
-
Severe
-
India
-
Mahajan et al (2004)
  c.412A>C
p.(Asn138His) Legacy AA 92
Variant Type:
Point
Domain:
EGF2
cDNA number:
412
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
9
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
813
-
-
-
-
Centre B6 (unpublished)
814
5
57
Moderate
II
NO
France
-
Attali et al (1999)
816
<1
-
Severe
-
-
Centre B36 (unpublished)
818
<1
-
Severe
-
-
Centre B36 (unpublished)
819
7
-
Mild
-
-
Centre B36 (unpublished)
820
12
-
Mild
-
Italy
-
Belvini et al (2005)
821
5
-
Moderate
-
-
Centre B25 (unpublished)
822
2
-
Moderate
-
-
Centre B25 (unpublished)
828
2
66
Moderate
II
Japan
-
Nishimura et al (1993)
  c.413del
p.(Asn138Metfs*65) Legacy AA 92
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
413
Variant Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of cases reported:
2
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 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
827
<1
-
Severe
-
United States
-
Weinmann et al (1998)
4720
<1
Severe
NO
United States
Johnsen et al (2017)
  c.413A>G
p.(Asn138Ser) Legacy AA 92
Variant Type:
Point
Domain:
EGF2
cDNA number:
413
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
829
-
-
Moderate
-
China
-
Liu et al (2000)
3576
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
4013
2
Moderate
NO
United States
Johnsen et al (2017)
  c.414T>A
p.(Asn138Lys) Legacy AA 92
Variant Type:
Point
Domain:
EGF2
cDNA number:
414
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
830
2
-
Moderate
-
France
-
Ghanem et al (1993)
831
<1
86
Severe
II
France
-
Tartary et al (1993)
832
<1
-
Severe
-
NO
France
-
Attali et al (1999)
833
<1
-
Severe
-
France
-
Ghanem et al (1993)
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