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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: 6 unique variants retrieved

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  c.160G>C
p.(Glu54Gln) Legacy AA 8
Variant Type:
Point
Domain:
Gla
cDNA number:
160
Variant Effect:
Missense
Location:
Exon(2)
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
3641
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
  c.160G>A
p.(Glu54Lys) Legacy AA 8
Variant Type:
Point
Domain:
Gla
cDNA number:
160
Variant Effect:
Missense
Location:
Exon(2)
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
344
2
-
Moderate
-
-
Centre B13 (unpublished)
  c.161A>C
p.(Glu54Ala) Legacy AA 8
Variant Type:
Point
Domain:
Gla
cDNA number:
161
Variant Effect:
Missense
Location:
Exon(2)
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
345
4
-
Moderate
-
United Kingdom
-
Saad et al (1994)
  c.161A>G
p.(Glu54Gly) Legacy AA 8
Variant Type:
Point
Domain:
Gla
cDNA number:
161
Variant Effect:
Missense
Location:
Exon(2)
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
346
2
45
Moderate
II
United States
-
Bottema et al (1991)
  c.161_162del
p.(Glu54Valfs*7) Legacy AA 8
Variant Type:
Deletion
Domain:
Gla
cDNA number:
161
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
6
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 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3073
<1
<1
Severe
-
France
-
Ghanem et al (1993)
3074
<1
-
Severe
-
-
Centre B38 (unpublished)
3075
<1
<1
Severe
-
United Kingdom
-
Green et al (1991)
3076
<1
<1
Severe
-
Japan
-
Seita et al, 2009
3444
<1
-
Severe
-
NO
Malaysia
-
Balraj et al (2012)
4717
1
Moderate
YES
United States
Johnsen et al (2017)
  c.162G>C
p.(Glu54Asp) Legacy AA 8
Variant Type:
Point
Domain:
Gla
cDNA number:
162
Variant Effect:
Missense
Location:
Exon(2)
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
347
<1
-
Severe
-
India
-
Jayandharan et al (2005)
348
<1
100
Severe
II
Germany
-
Wulff et al (1999)
3815
Germany
Wulff et al (2001)
3563
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
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