EAHAD Logo

Factor IX Gene (F9) Variant Database  

F9
  • Home
  • Advanced Search
  • Variants
    • Variant Map
    • F9 cDNA-Protein Translation
    • New Variant?
    • Variant Statistics
    • World Map
  • AA Alignments
    • FIX Ten Species
    • IX-VII-X-PC-CHY
  • Resources
    • Published References
    • Coagbase Data
    • Uniprot FA9
  • Structures
  • Support
    • Submit Variants
    • Organisations
    • EAHAD DB
    • Contact Us
    • Help
Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 2 unique variants retrieved

  1. «
  2. 1
  3. »
  c.892C>T
p.(Arg298*) Legacy AA 252
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
892
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
65
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
3747
<1
6
Severe
II
United Kingdom
Green et al (1990)
1775
<1
<1
Severe
-
France
-
Siguret et al (1988)
1776
<1
6
Severe
II
United Kingdom
-
Green et al (1991)
1777
<1
<1
Severe
-
United States
-
Chen et al (1989a)
1778
3
-
Moderate
-
-
Centre B21 (unpublished)
1779
<1
<1
Severe
-
Canada
also Fraser et al (1992)
Poon et al (1987)
1780
<1
<1
Severe
-
Centre B4 (unpublished)
1781
<1
-
Severe
-
United Kingdom
-
Green et al (1992)
1782
-
-
-
United Kingdom
-
Saad et al (1994)
1783
1
-
Moderate
-
Turkey
-
Onay et al (2003)
1784
3
<1
Moderate
I
United States
-
Bottema et al (1991)
1785
<1
-
Severe
-
United States
-
Ketterling et al (1993A)
1786
<1
-
Severe
-
Brazil
-
Figueiredo et al (1993)
1787
<1
-
Severe
-
France
-
Ghanem et al (1993)
1788
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
1789
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
1790
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
1791
<1
4
Severe
II
-
Aguilar-Martinez et al (1994B)
1792
<1
-
Severe
-
-
Centre B18 (unpublished)
1793
<1
-
Severe
-
Germany
-
Wulff et al (1995)
1794
1
-
Moderate
-
Portugal
-
David et al (1998)
1795
<1
-
Severe
-
-
Centre B30 (unpublished)
1796
<1
-
Severe
-
Brazil
-
Meireles et al (2017)
1797
2
-
Moderate
-
Germany
-
Wulff et al (2001)
1798
<1
<1
Severe
-
France
-
Costa et al (2000)
1799
<1
-
Severe
-
United States
-
Driscoll et al (1996)
1800
<1
<1
Severe
-
Sweden
-
Ljung et al (2001)
1802
-
-
-
-
Centre B30 (unpublished)
1803
<1
<1
Severe
-
-
Centre B13 (unpublished)
1804
<1
-
Severe
-
Germany
-
Wulff et al (2001)
1805
<1
<1
Severe
-
-
Centre B24 (unpublished)
1806
-
-
-
Spain
-
Montejo et al (1999)
1807
<1
<6
Severe
-
-
Centre B14 (unpublished)
1808
<1
<1
Severe
-
France
-
Costa et al (2000)
1809
-
-
-
Spain
-
Montejo et al (1999)
1810
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
1811
-
-
-
Germany
-
Wulff and Herrmann (1999)
1812
-
-
-
Germany
-
Wulff and Herrmann (1999)
1813
-
-
Severe
-
China
-
Liu et al (2000)
1814
<1
-
Severe
-
United States
-
Li et al (2000)
1815
-
-
Severe
-
China
-
Liu et al (2000)
1816
<1
-
Severe
-
Spain
-
Vidal et al (2000)
1819
1
-
Moderate
-
-
Centre B13 (unpublished)
1820
-
-
-
-
Centre B21 (unpublished)
1821
-
-
Severe
-
YES
Italy
-
Belvini et al (2005)
1822
-
-
-
-
Centre B39 (unpublished)
1823
-
-
-
-
Centre B39 (unpublished)
1824
-
-
-
-
Centre B39 (unpublished)
1825
1
-
Moderate
-
-
Centre B36 (unpublished)
3442
-
-
Severe
-
NO
Italy
-
Belvini et al (2005)
3454
<1
-
Severe
-
NO
Italy
-
Belvini et al (2005)
3455
<1
-
Severe
-
NO
Italy
-
Belvini et al (2005)
3465
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
3466
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
3467
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
3526
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
3527
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
3597
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3598
-
-
Severe
-
NO
China
-
Yu et al (2012)
3701
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
4614
<1
Severe
NO
United States
Johnsen et al (2017)
4615
2
Moderate
NO
United States
Johnsen et al (2017)
4616
2
Moderate
United States
Johnsen et al (2017)
4617
<1
Severe
NO
United States
Johnsen et al (2017)
4618
<1
Severe
YES
United States
Johnsen et al (2017)
  c.893G>T
p.(Arg298Leu) Legacy AA 252
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
893
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
1827
13
-
Mild
-
United Kingdom
-
Saad et al (1994)
  1. «
  2. 1
  3. »
© Copyright 2010-2022, EAHAD. No part of this site may be copied or used in any way without permission. Hosted at MDSAS.