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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: 8 unique variants retrieved

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  c.81_82dup
p.(Cys28Tyrfs*15) Legacy AA -19
Variant Type:
Duplication
Domain:
Pro-Peptide
cDNA number:
81
Variant Effect:
Frameshift
Location:
Exon(1)
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 (Duplication | Frameshift) of variant at Exon 1.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2908
<1
<1
Severe
-
-
Centre B23 (unpublished)
  c.82T>C
p.(Cys28Arg) Legacy AA -19
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
82
Variant Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of cases reported:
5
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
110
4
4
Moderate
I
Germany
-
Wulff et al (1999)
111
4
-
Moderate
-
Italy
-
Belvini et al (2005)
114
20
-
Mild
-
United States
-
Bottema et al (1991)
3654
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
3842
3
Moderate
NO
United States
Johnsen et al (2017)
  c.82T>G
p.(Cys28Gly) Legacy AA -19
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
82
Variant Effect:
Missense
Location:
Exon(1)
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
113
-
-
Severe
-
China
-
Liu et al (2000)
  c.83delG
p.(Cys28Leufs*14) Legacy AA -19
Variant Type:
Deletion
Domain:
Signal Peptide
cDNA number:
83
Variant Effect:
Frameshift
Location:
Exon(1)
CpG:
N
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 1.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
122
<1
-
Severe
-
France
-
Ghanem et al (1993)
  c.83G>A
p.(Cys28Tyr) Legacy AA -19
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
83
Variant Effect:
Missense
Location:
Exon(1)
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
115
-
-
-
-
Centre B21 (unpublished)
116
-
-
Severe
-
Italy
-
Belvini et al (2005)
117
1
-
Moderate
-
-
Centre B36 (unpublished)
118
-
-
-
-
Centre B38 (unpublished)
119
1
-
Moderate
-
-
Centre B36 (unpublished)
120
1
-
Moderate
-
-
Centre B36 (unpublished)
121
3.9
-
Moderate
-
Turkey
-
Onay et al (2003)
123
5
-
Moderate
-
-
Centre B35 (unpublished)
124
<1
-
Severe
-
NO
Italy
-
Bicocchi et al (2006)
  c.84T>A
p.(Cys28*) Legacy AA -19
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
84
Variant Effect:
Nonsense
Location:
Exon(1)
CpG:
N
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 (Point | Nonsense) of variant at Exon 1.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
126
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
  c.84T>G
p.(Cys28Trp) Legacy AA -19
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
84
Variant Effect:
Missense
Location:
Exon(1)
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
125
<1
<1
Severe
-
Denmark
-
Nielsen et al (1995)
  c.85_88+6delACAGGTTTGT
p.(Cys28fs*?) Legacy AA -19
Variant Type:
Deletion
Domain:
Signal Peptide
cDNA number:
85
Variant Effect:
Splice
Location:
Exon(1)
CpG:
N
No. of cases reported:
2
No. of bases:
10
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 | Splice) of variant at Exon 1.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3070
<1
-
Severe
-
-
Centre B13 (unpublished)
3071
-
<1
-
United Kingdom
-
Saad et al (1994)
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