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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: 4 unique variants retrieved

  1. «
  2. 1
  3. »
  c.127delC
p.(Arg43Glyfs*61) Legacy AA -4
Variant Type:
Deletion
Domain:
Pro-Peptide
cDNA number:
127
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
Y
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 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
214
<1
-
Severe
-
India
-
Jayandharan et al (2003)
  c.127C>T
p.(Arg43Trp) Legacy AA -4
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
127
Variant Effect:
Missense
Location:
Exon(2)
CpG:
Y
No. of cases reported:
72
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
156
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
157
<1
40
Severe
II
Germany
-
Knobloch et al (1993)
158
<1
26 to 34
Severe
II
United Kingdom
-
Green et al (1989)
159
2 to 3
36
Moderate
-
United Kingdom
-
Green et al (1990)
160
2
27
Moderate
II
United Kingdom
-
Green et al (1990)
161
1
30
Moderate
II
United Kingdom
-
Green et al (1990)
162
2
-
Moderate
-
United Kingdom
-
Saad et al (1994)
163
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
164
4
-
Moderate
-
United Kingdom
-
Saad et al (1994)
165
2
-
Moderate
-
Sweden
-
Ljung et al (2001)
166
<1
20
Severe
II
NO
Italy
-
Bicocchi et al (2006)
167
<1
28
Severe
II
France
-
Ghanem et al (1993)
168
4
9
Moderate
II
United States
-
Bottema et al (1991)
169
1.5
-
Moderate
-
Germany
-
Knobloch et al (1993)
170
<1
-
Severe
-
Germany
-
Ivaskevicius et al (2001)
171
-
-
-
Pakistan
-
Nawaz et al (2008)
172
-
-
-
Pakistan
-
Nawaz et al (2008)
173
<1
-
Severe
-
Germany
-
Ivaskevicius et al (2001)
174
1
-
Moderate
-
Germany
-
Knobloch et al (1993)
175
<1
-
Severe
-
France
-
Ghanem et al (1993)
176
3
20
Moderate
II
United States
-
Gostout et al (1993)
177
-
-
-
-
Centre B30 (unpublished)
178
-
-
-
Brazil
-
Meireles et al (2017)
179
-
-
-
France
-
Costa et al (2000)
180
<1
-
Severe
-
-
Centre B39 (unpublished)
181
-
-
-
-
Centre B17 (unpublished)
182
2
-
Moderate
-
-
Centre B13 (unpublished)
183
1
37
Moderate
II
United States
-
Weinmann et al (1998)
184
-
-
-
Sweden
-
Ljung et al (2001)
185
1
-
Moderate
-
Italy
-
Belvini et al (2005)
186
1.5
-
Moderate
-
-
Centre B13 (unpublished)
187
-
-
-
United States
-
Heit et al (1998)
188
<1
37
Severe
II
-
Centre B38 (unpublished)
189
<1
-
Severe
-
France
-
Costa et al (2000)
190
-
-
-
-
Centre B39 (unpublished)
191
<1
-
Severe
-
Spain
-
Montejo et al (1999)
192
1
52
Moderate
II
-
Centre B14 (unpublished)
193
1
28
Moderate
II
-
Centre B14 (unpublished)
194
<1
38
Severe
II
France
-
Costa et al (2000)
195
<1
-
Severe
-
France
-
Costa et al (2000)
196
6
-
Mild
-
Spain
-
Montejo et al (1999)
197
3
41
Moderate
II
NO
France
-
Attali et al (1999)
198
-
-
-
-
Centre B24 (unpublished)
199
-
-
-
-
Centre B39 (unpublished)
200
-
-
-
Germany
-
Wulff et al (2001)
201
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
202
-
-
-
China
-
Liu et al (2000)
203
<1
-
Severe
-
India
-
Mahajan et al (2004)
204
-
-
-
-
Centre B21 (unpublished)
205
<1
-
Severe
-
-
Centre B9 (unpublished)
207
-
-
-
Germany
-
Wulff et al (2001)
208
-
-
-
Germany
-
Wulff et al (2001)
209
-
-
-
-
Centre B39 (unpublished)
210
2
-
Moderate
-
-
Centre B36 (unpublished)
211
<1
-
Severe
-
-
Centre B13 (unpublished)
212
1.3
-
Moderate
-
India
-
Mukherjee et al (2004)
213
3.2
-
Moderate
-
Tunisia
-
Elmahmoudi et al (2011)
215
4
36
Moderate
II
-
Centre B27 (unpublished)
3750
4
Moderate
United Kingdom
Green et al (1992)
3751
2
Moderate
United Kingdom
Green et al (1992)
3752
<1
Severe
United Kingdom
Green et al (1992)
3485
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
3554
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3555
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3556
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
3557
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
3655
-
-
Severe
-
NO
United States
-
Miller et al (2012)
3844
2
Moderate
NO
United States
Johnsen et al (2017)
3845
<1
Severe
United States
Johnsen et al (2017)
3846
2
Moderate
NO
United States
Johnsen et al (2017)
3847
1
Moderate
NO
United States
Johnsen et al (2017)
3848
<1
Severe
NO
United States
Johnsen et al (2017)
  c.128G>A
p.(Arg43Gln) Legacy AA -4
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
128
Variant Effect:
Missense
Location:
Exon(2)
CpG:
Y
No. of cases reported:
98
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
216
<1
-
Severe
-
Italy
-
Belvini et al (2005)
217
<1
98
Severe
II
United States
-
Ware et al (1989)
219
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
220
4
93
Moderate
II
China
Patient tested at Hong Kong
Chan et al (1991)
221
1
82
Moderate
II
China
Patient tested at Hong Kong
Chan et al (1991)
222
<1
46
Severe
II
Japan
-
Sugimoto et al (1989)
223
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
224
<1
40
Severe
II
France
-
de la Salle et al (1993B)
225
4
80
Moderate
II
United Kingdom
-
Liddell et al (1989)
226
1
48
Moderate
II
United Kingdom
-
Green et al (1989)
227
<1
15 to 53
Severe
II
NO
Italy
-
Bicocchi et al (2006)
228
1
45
Moderate
II
United Kingdom
-
Green et al (1989)
229
-
-
-
-
Centre B12 (unpublished)
230
<1
38
Severe
II
Taiwan
-
Lin et al (1991)
231
2
-
Moderate
-
New Zealand
-
Van de Water et al (1996)
232
2
40
Moderate
II
United States
-
Thompson et al (1992A)
233
-
-
-
United States
-
Thompson et al (1992A)
234
<1
-
Familial
Severe
-
India
-
Jayandharan et al (2005)
235
<1
65
Severe
II
United States
-
Thompson et al (1992A)
236
<1
41
Severe
II
United States
-
Thompson et al (1992A)
237
<1
37
Severe
II
United States
-
Bottema et al (1991)
238
<1
49
Severe
II
-
Centre B41 (unpublished)
239
2
15
Moderate
II
Canada
-
Poon et al (1993)
240
<1
55
Severe
II
Taiwan
-
Lin and Shen (1993)
241
-
-
-
United Kingdom
-
Saad et al (1994)
242
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
243
-
-
-
United Kingdom
-
Saad et al (1994)
244
2
-
Moderate
-
United Kingdom
-
Saad et al (1994)
245
<1
-
Severe
-
France
-
Ghanem et al (1993)
246
<1
-
Severe
-
-
Centre B6 (unpublished)
247
18
-
Mild
-
France
-
Tartary et al (1993)
248
3
38
Moderate
II
United States
-
Bottema et al (1993)
249
1
26
Moderate
II
United States
-
Gostout et al (1993)
250
-
-
Severe
-
United States
-
Bottema et al (1993)
251
2.6
49
Moderate
II
United States
-
Gostout et al (1993)
252
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
253
-
-
-
-
Centre B30 (unpublished)
254
2
-
Moderate
-
United States
-
Thorland et al (1995)
255
<1
55
Severe
II
-
Centre B30 (unpublished)
256
3
-
Moderate
-
Brazil
-
Meireles et al (2017)
257
4
-
Moderate
-
-
Centre B30 (unpublished)
258
<1
-
Severe
-
-
Centre B30 (unpublished)
259
<1
40 to 57
Severe
II
-
Centre B30 (unpublished)
260
<1
52
Severe
II
Germany
-
Wulff et al (2001)
261
<1
48
Severe
II
Germany
-
Wulff et al (1999)
263
1
-
Moderate
-
-
Centre B13 (unpublished)
264
<1
-
Severe
-
France
-
Costa et al (2000)
265
<1
-
Severe
-
United States
-
Heit et al (1998)
266
<1
37
Severe
II
-
Centre B38 (unpublished)
267
<1
-
Severe
-
Spain
-
Montejo et al (1999)
268
<1
52
Severe
II
Germany
-
Wulff et al (1999)
269
3
-
Moderate
-
Spain
-
Montejo et al (1999)
270
<1
-
Severe
-
-
Centre B13 (unpublished)
271
<1
44
Severe
II
NO
France
-
Attali et al (1999)
272
<1
-
Severe
-
United States
-
Bottema et al (1990A)
273
-
-
-
China
-
Liu et al (2000)
274
-
-
-
China
-
Liu et al (2000)
275
-
-
-
China
-
Liu et al (2000)
276
-
-
-
China
-
Liu et al (2000)
277
2
-
Moderate
-
-
Centre B20 (unpublished)
278
-
-
-
-
Centre B39 (unpublished)
280
1
-
Moderate
-
-
Centre B36 (unpublished)
281
<1
12
Severe
II
-
Centre B38 (unpublished)
283
<1
-
Severe
-
-
Centre B25 (unpublished)
284
-
-
-
-
Centre B20 (unpublished)
286
<1
-
Severe
-
-
Centre B5 (unpublished)
287
<1
-
Severe
-
United Kingdom
-
Enayat et al (2004)
288
1.8
-
Moderate
-
United Kingdom
-
Enayat et al (2004)
289
2
-
Moderate
-
Turkey
-
Onay et al (2003)
290
<1
-
Familial
Severe
-
Jordan
-
Awidi et al (2011)
291
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
292
<1
89
Severe
II
United Kingdom
-
Bentley et al (1986)
304
<1
-
Severe
-
Germany
-
Wulff et al (2001)
3445
<1
-
Severe
-
NO
Malaysia
-
Balraj et al (2012)
3486
<1
-
Familial
Severe
-
NO
Argentina
-
Radic et al (2013)
3558
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
3559
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
3560
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3561
-
-
Mild
-
NO
China
-
Yu et al (2012)
3562
-
-
Mild
-
NO
China
-
Yu et al (2012)
3656
-
-
Severe
-
NO
United States
-
Miller et al (2012)
3849
<1
Severe
NO
United States
Johnsen et al (2017)
3850
<1
Severe
United States
Johnsen et al (2017)
3851
<1
Severe
NO
United States
Johnsen et al (2017)
3852
<1
Severe
United States
Johnsen et al (2017)
3853
<1
Severe
NO
United States
Johnsen et al (2017)
3854
<1
Severe
NO
United States
Johnsen et al (2017)
3855
<1
Severe
NO
United States
Johnsen et al (2017)
3856
<1
Severe
NO
United States
Johnsen et al (2017)
3857
2
Moderate
United States
Johnsen et al (2017)
3858
<1
Severe
NO
United States
Johnsen et al (2017)
3859
<1
Severe
NO
United States
Johnsen et al (2017)
3860
1
Moderate
NO
United States
Johnsen et al (2017)
3861
<1
Severe
NO
United States
Johnsen et al (2017)
3862
<1
Severe
NO
United States
Johnsen et al (2017)
3863
<1
Severe
NO
United States
Johnsen et al (2017)
3864
1
Moderate
NO
United States
Johnsen et al (2017)
3865
<1
Severe
NO
United States
Johnsen et al (2017)
  c.128G>T
p.(Arg43Leu) Legacy AA -4
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
128
Variant Effect:
Missense
Location:
Exon(2)
CpG:
Y
No. of cases reported:
17
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
3795
1
-
Moderate
-
Turkey
-
Onay et al (2003)
293
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
294
<1
45
Severe
II
Germany
-
Knobloch et al (1993)
295
<1
49
Severe
II
Germany
-
Knobloch et al (1993)
296
<1
27
Severe
II
United States
-
Koeberl et al (1990B)
297
2
52
Moderate
II
France
-
Ghanem et al (1993)
298
3
-
Moderate
-
France
-
Ghanem et al (1993)
299
<1
-
Severe
-
Germany
-
Wulff et al (1995)
300
<1
-
Severe
-
Germany
-
Wulff et al (1995)
301
3
-
Moderate
-
Brazil
-
Meireles et al (2017)
302
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
303
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
305
-
-
-
Germany
-
Wulff et al (2001)
306
-
-
-
Germany
-
Wulff et al (2001)
307
-
-
-
-
Centre B39 (unpublished)
308
-
-
-
-
Centre B20 (unpublished)
3866
<1
Severe
YES
United States
Johnsen et al (2017)
  1. «
  2. 1
  3. »
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