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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.1095delA
p.(Ala366Leufs*2) Legacy AA 320
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1095
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2198
-
-
-
-
Centre B13 (unpublished)
  c.1096G>C
p.(Ala366Pro) Legacy AA 320
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1096
Variant Effect:
Missense
Location:
Exon(8)
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
2199
26
-
Mild
-
-
Centre B25 (unpublished)
  c.1097C>A
p.(Ala366Asp) Legacy AA 320
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1097
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
12
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
2200
4
-
Moderate
-
United Kingdom
-
Saad et al (1994)
2201
3
-
Moderate
-
New Zealand
-
Van de Water et al (1996)
2202
1.5
-
Moderate
-
New Zealand
-
Van de Water et al (1996)
2203
-
-
-
Spain
-
Montejo et al (1999)
2211
<1
90
Severe
II
United States
-
Koeberl et al (1990B)
4397
4
Moderate
NO
United States
Johnsen et al (2017)
4398
4
Moderate
NO
United States
Johnsen et al (2017)
4399
4
Moderate
NO
United States
Johnsen et al (2017)
4400
4
Moderate
NO
United States
Johnsen et al (2017)
4401
4
Moderate
NO
United States
Johnsen et al (2017)
4402
3
Moderate
NO
United States
Johnsen et al (2017)
4403
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1097C>G
p.(Ala366Gly) Legacy AA 320
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1097
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
2204
-
-
Mild
-
Italy
-
Belvini et al (2005)
2205
14
97
Mild
II
-
Centre B25 (unpublished)
  c.1097C>T
p.(Ala366Val) Legacy AA 320
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1097
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
2206
-
-
-
France
-
Ghanem et al (1993)
2207
15
62
Mild
II
France
-
Costa et al (2000)
2208
3
119
Moderate
II
-
Centre B14 (unpublished)
2209
1
62
Moderate
II
-
Centre B20 (unpublished)
2210
50
-
Mild
-
-
Centre B13 (unpublished)
4396
5
Moderate
NO
United States
Johnsen et al (2017)
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