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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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SCREEN TABLE
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SCREEN TABLE



Search Results: 6 unique variants retrieved

  1. «
  2. 1
  3. »
  c.1135C>T
p.(Arg379*) Legacy AA 333
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1135
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
75
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
3749
<1
135
Severe
II
United Kingdom
Green et al (1990)
2196
-
-
-
Pakistan
-
Nawaz et al (2008)
2254
-
-
Moderate
-
Italy
-
Belvini et al (2005)
2255
<1
<1
Severe
-
United States
-
Koeberl et al (1990A)
2256
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2257
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2258
<1
1
Severe
-
United States
-
Koeberl et al (1990A)
2259
6
-
Mild
-
United Kingdom
-
Montandon et al (1990B)
2260
<1
1
Severe
-
United States
-
Chen et al (1991a)
2261
<1
<1
Severe
-
Germany
-
Knobloch et al (1993)
2262
<1
<1
Severe
-
Germany
-
Knobloch et al (1993)
2263
<1
<1
Severe
-
Germany
-
Knobloch et al (1993)
2264
<1
<1
Severe
-
-
Centre B26 (unpublished)
2265
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
2266
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
2267
4
<1
Moderate
I
United States
-
Bottema et al (1991)
2268
<1
<1
Severe
-
United States
-
Thompson et al (1992A)
2269
-
-
Severe
-
United States
-
Ketterling et al (1993A)
2270
-
-
Sporadic
Severe
-
Ireland
-
Jenkins et al (2008)
2271
<1
<1
Severe
-
Taiwan
-
Lin and Shen (1993)
2272
1
-
Moderate
-
Portugal
-
David et al (1993)
2273
<1
5
Severe
II
United Kingdom
-
Saad et al (1994)
2274
<1
<1
Severe
-
Sweden
-
Ljung et al (2001)
2275
-
-
-
Turkey
-
Onay et al (2003)
2276
<1
-
Severe
-
France
-
Ghanem et al (1993)
2277
-
-
Severe
-
United States
-
Gostout et al (1993)
2278
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
2279
-
-
-
-
Centre B30 (unpublished)
2280
<1
-
Severe
-
-
Centre B30 (unpublished)
2281
-
-
-
-
Centre B30 (unpublished)
2282
17
19
Familial
Mild
I
United States
-
Chen et al (1995)
2283
<1
-
Severe
-
-
Centre B11 (unpublished)
2284
<1
-
Severe
-
Germany
-
Wulff et al (2001)
2285
<1
-
Severe
-
Germany
-
Wulff et al (2001)
2286
<1
-
Severe
-
France
-
Costa et al (2000)
2287
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
2288
-
-
-
-
Centre B17 (unpublished)
2289
-
-
-
-
Centre B35 (unpublished)
2290
-
-
-
Pakistan
-
Nawaz et al (2008)
2291
<1
-
Severe
-
-
Centre B13 (unpublished)
2292
-
-
-
-
Centre B8 (unpublished)
2293
-
-
-
-
Centre B30 (unpublished)
2294
<1
<6
Severe
-
-
Centre B14 (unpublished)
2295
<1
-
Severe
-
NO
France
-
Attali et al (1999)
2296
-
-
Severe
-
China
-
Liu et al (2000)
2297
-
-
-
-
Centre B39 (unpublished)
2298
<1
-
Severe
-
-
Centre B36 (unpublished)
2299
<1
-
Severe
-
-
Centre B36 (unpublished)
2300
<1
-
Severe
-
-
Centre B9 (unpublished)
2301
-
-
-
-
Centre B21 (unpublished)
2302
1
-
Moderate
-
-
Centre B21 (unpublished)
2303
<1
-
Severe
-
-
Centre B25 (unpublished)
2304
-
-
-
-
Centre B39 (unpublished)
2305
-
-
-
-
Centre B39 (unpublished)
2306
-
-
-
-
Centre B39 (unpublished)
2307
<1
-
Severe
-
-
Centre B38 (unpublished)
2309
<1
-
Severe
-
India
-
Mahajan et al (2007)
2310
<1
-
Sporadic
Severe
-
Jordan
-
Awidi et al (2011)
3482
<1
-
Severe
-
India
-
Jayandharan et al (2009)
3528
<1
-
Familial
Severe
-
NO
Argentina
-
Radic et al (2013)
3608
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3609
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3610
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3611
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3612
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
3613
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
4626
1
Moderate
NO
United States
Johnsen et al (2017)
4627
<1
Severe
NO
United States
Johnsen et al (2017)
4628
<1
Severe
NO
United States
Johnsen et al (2017)
4629
<1
Severe
NO
United States
Johnsen et al (2017)
4630
<1
Severe
NO
United States
Johnsen et al (2017)
4631
<1
Severe
NO
United States
Johnsen et al (2017)
4632
<1
Severe
NO
United States
Johnsen et al (2017)
4633
<1
Severe
NO
United States
Johnsen et al (2017)
4634
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1135C>G
p.(Arg379Gly) Legacy AA 333
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1135
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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
2249
<1
63
Severe
II
United States
-
Bottema et al (1991)
2250
-
-
Moderate
-
Germany
-
Wulff et al (1995)
2252
<1
-
Severe
-
India
-
Mukherjee et al (2004)
2253
2
-
Moderate
-
Italy
-
Belvini et al (2005)
2308
13
17
Mild
I
United States
-
Bottema et al (1990C)
  c.1135C>A
p.(Arg379Gly) Legacy AA 333
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1135
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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
2311
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
  c.1136G>A
p.(Arg379Gln) Legacy AA 333
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1136
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
80
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
3768
3
Moderate
Ireland
Jenkins et al (2008)
2312
3
119
Moderate
II
United Kingdom
-
Green et al (1992)
2313
<1
135
Severe
II
United Kingdom
-
Tsang et al (1988)
2314
1
122
Moderate
II
Netherlands
-
Poort et al (1989)
2315
1
75
Moderate
II
United Kingdom
-
Green et al (1989)
2316
1
130
Moderate
II
United Kingdom
-
Green et al (1990)
2317
2
32
Moderate
II
United States
-
Wang et al (1990)
2318
<1
87
Severe
II
-
Centre B21 (unpublished)
2319
2
38
Moderate
II
United States
-
Chen et al (1991a)
2320
2
60
Moderate
II
Germany
-
Ludwig et al (1992A)
2321
4
86
Moderate
II
Germany
-
Ludwig et al (1992A)
2322
2
88
Moderate
II
Germany
-
Knobloch et al (1993)
2323
4
93
Moderate
II
Germany
-
Knobloch et al (1993)
2324
-
-
-
United Kingdom
-
Saad et al (1994)
2325
2
80
Moderate
II
United States
-
Thompson and Chen (1992)
2326
2
86
Moderate
II
United States
-
Bottema et al (1991)
2327
16
140
Mild
II
Canada
-
Poon et al (1993)
2328
<1
-
Severe
-
Portugal
-
David et al (1993)
2329
4
-
Moderate
-
United Kingdom
-
Saad et al (1994)
2330
<1
-
Severe
-
France
-
Ghanem et al (1993)
2331
<1
-
Severe
-
France
-
Martinez et al (1994)
2332
1
-
Moderate
-
-
Centre B6 (unpublished)
2333
2
88
Moderate
II
France
-
Tartary et al (1993)
2334
-
-
-
Turkey
-
Onay et al (2003)
2335
2
125
Moderate
II
France
-
Tartary et al (1993)
2336
-
-
Moderate
-
United States
-
Bottema et al (1993)
2337
1
-
Moderate
-
-
Centre B30 (unpublished)
2338
2
-
Moderate
-
-
Centre B11 (unpublished)
2339
2.5
-
Moderate
-
-
Centre B30 (unpublished)
2340
1
-
Moderate
-
-
Centre B30 (unpublished)
2341
-
-
-
-
Centre B30 (unpublished)
2342
8
108
Mild
II
-
Centre B30 (unpublished)
2343
3
-
Moderate
-
-
Centre B30 (unpublished)
2344
2
-
Moderate
-
Germany
-
Wulff et al (2001)
2345
1
-
Moderate
-
-
Centre B12 (unpublished)
2346
<1
-
Severe
-
Germany
-
Wulff et al (2001)
2347
1
-
Moderate
-
-
Centre B12 (unpublished)
2348
1
-
Moderate
-
-
Centre B13 (unpublished)
2349
1
98
Moderate
II
-
Centre B14 (unpublished)
2350
2
148
Moderate
II
-
Centre B14 (unpublished)
2351
<1
-
Severe
-
United States
-
Heit et al (1998)
2352
-
-
Severe
-
China
-
Liu et al (2000)
2353
-
-
Severe
-
China
-
Liu et al (2000)
2354
-
-
-
-
Centre B39 (unpublished)
2355
-
-
-
-
Centre B39 (unpublished)
2357
<1
-
Severe
-
-
Centre B36 (unpublished)
2358
<1
-
Severe
-
-
Centre B36 (unpublished)
2359
1
-
Moderate
-
-
Centre B21 (unpublished)
2360
<1
-
Severe
-
-
Centre B21 (unpublished)
2361
<1
-
Severe
-
-
Centre B21 (unpublished)
2362
1.3
-
Moderate
-
-
Centre B21 (unpublished)
2363
<1
-
Severe
-
-
Centre B25 (unpublished)
2364
2 to 3.5
-
Moderate
-
-
Centre B25 (unpublished)
2365
-
-
-
-
Centre B39 (unpublished)
2366
-
-
-
-
Centre B39 (unpublished)
2367
5.2
-
Moderate
-
-
Centre B36 (unpublished)
2368
3
-
Moderate
-
-
Centre B36 (unpublished)
2370
1 to 2
-
Moderate
-
-
Centre B13 (unpublished)
2371
3
-
Moderate
-
-
Centre B13 (unpublished)
2372
1.42
-
Moderate
-
India
-
Jayandharan et al (2003)
2373
3
-
Moderate
-
-
Centre B10 (unpublished)
2374
3
-
Moderate
-
-
Centre B10 (unpublished)
2375
15
-
Mild
-
Italy
-
Belvini et al (2005)
3503
6
-
Sporadic
Mild
-
NO
Argentina
-
Radic et al (2013)
3504
2
-
Sporadic
Moderate
-
NO
Argentina
-
Radic et al (2013)
3614
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3615
-
-
Moderate
-
NO
China
-
Yu et al (2012)
4408
2
Moderate
NO
United States
Johnsen et al (2017)
4409
<1
Severe
NO
United States
Johnsen et al (2017)
4410
2
Moderate
NO
United States
Johnsen et al (2017)
4411
1
Moderate
NO
United States
Johnsen et al (2017)
4412
3
Moderate
NO
United States
Johnsen et al (2017)
4413
3
Moderate
NO
United States
Johnsen et al (2017)
4414
2
Moderate
NO
United States
Johnsen et al (2017)
4415
2
Moderate
NO
United States
Johnsen et al (2017)
4416
1
Moderate
NO
United States
Johnsen et al (2017)
4417
1
Moderate
United States
Johnsen et al (2017)
4418
1
Moderate
NO
United States
Johnsen et al (2017)
4419
4
Moderate
NO
United States
Johnsen et al (2017)
4420
4
Moderate
United States
Johnsen et al (2017)
  c.1136G>T
p.(Arg379Leu) Legacy AA 333
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1136
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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
2377
2
150
Moderate
II
United States
-
Bottema et al (1991)
3616
-
-
Moderate
-
NO
China
-
Yu et al (2012)
4406
1
Moderate
NO
United States
Johnsen et al (2017)
4407
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1136G>C
p.(Arg379Pro) Legacy AA 333
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1136
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
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
2376
1.7
-
Moderate
-
Italy
-
Belvini et al (2005)
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