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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: 3 unique variants retrieved

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  2. 1
  3. »
  c.706G>T
p.(Gly236Cys) Legacy AA 190
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
706
Variant Effect:
Missense
Location:
Exon(6)
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
1331
1
-
Moderate
-
United Kingdom
-
Saad et al (1994)
  c.707G>A
p.(Gly236Asp) Legacy AA 190
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
707
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
18
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
1332
<1
-
Severe
-
-
Centre B36 (unpublished)
1333
-
-
-
-
Centre B36 (unpublished)
1334
1
-
Moderate
-
Italy
-
Belvini et al (2005)
1335
-
-
-
-
Centre B36 (unpublished)
1336
1.3
-
Moderate
-
-
Centre B36 (unpublished)
1337
1.4
-
Moderate
-
-
Centre B36 (unpublished)
1338
2
-
Moderate
-
-
Centre B36 (unpublished)
1339
2
-
Moderate
-
-
Centre B36 (unpublished)
1340
3
-
Moderate
-
-
Centre B36 (unpublished)
1341
4
-
Moderate
-
-
Centre B36 (unpublished)
1342
1.9
-
Moderate
-
-
Centre B36 (unpublished)
1343
2
-
Moderate
-
-
Centre B36 (unpublished)
1344
4
-
Moderate
-
-
Centre B36 (unpublished)
1345
<1
50
Severe
II
NO
Italy
-
Bicocchi et al (2006)
1346
3
-
Moderate
-
-
Centre B36 (unpublished)
1347
-
-
-
-
Centre B36 (unpublished)
1348
5
-
Moderate
-
-
Centre B36 (unpublished)
1349
<1
-
Severe
-
-
Centre B36 (unpublished)
  c.706G>T
p.(Gly236Val) Legacy AA 190
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
707
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
3
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
1350
<1
-
Severe
-
-
Centre B12 (unpublished)
1351
<1
-
Severe
-
-
Centre B13 (unpublished)
1352
<1
36
Severe
II
-
Kao et al (2011)
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