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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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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.1069G>T
p.(Gly357*) Legacy AA 311
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1069
Variant Effect:
Nonsense
Location:
Exon(8)
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2168
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
  c.1069G>A
p.(Gly357Arg) Legacy AA 311
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1069
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
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
2162
2
100
Moderate
II
United States
-
Bottema et al (1991)
2163
<1
-
Severe
-
-
Centre B39 (unpublished)
2164
<1
-
Severe
-
Germany
-
Wulff et al (2001)
2165
<1
-
Severe
-
France
-
Costa et al (2000)
2166
<1
118
Severe
II
Germany
-
Wulff et al (1999)
2167
3
-
Moderate
-
United States
-
Koeberl et al (1989)
4394
<1
Severe
NO
United States
Johnsen et al (2017)
4395
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1070G>A
p.(Gly357Glu) Legacy AA 311
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1070
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
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
2170
<1
100
Severe
II
Japan
-
Miyata et al (1991)
2171
1
-
Moderate
-
United States
-
Thorland et al (1995)
2172
1
84
Moderate
II
-
Centre B14 (unpublished)
2174
<1
-
Severe
-
-
Centre B36 (unpublished)
2175
<1
100
Severe
II
NO
Italy
-
Bicocchi et al (2006)
2176
-
-
-
-
Centre B21 (unpublished)
2177
<1
-
Severe
-
Italy
-
Belvini et al (2005)
2178
<1
-
Severe
-
-
Centre B13 (unpublished)
  c.1070del
p.(Gly357Glufs*11) Legacy AA 311
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1070
Variant Effect:
Frameshift
Location:
Exon(8)
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2144
1.5
<1
Moderate
I
United States
-
Li et al (2000)
4723
<1
Severe
YES
United States
Johnsen et al (2017)
  c.1070G>T
p.(Gly357Val) Legacy AA 311
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1070
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
2179
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
2180
-
-
-
-
Centre B39 (unpublished)
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