EAHAD Factor IX Variant Database

Search Results: 2 unique variants retrieved

c.892C>T

p.(Arg298*) Legacy AA 252

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

892

Variant Effect:

Nonsense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

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1778	3	-		Moderate	-			-	Centre B21 (unpublished)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1		Severe	-				Centre B4 (unpublished)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1	-		Severe	-			-	Centre B18 (unpublished)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1	-		Severe	-			-	Centre B30 (unpublished)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1802	-	-			-			-	Centre B30 (unpublished)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1		Severe	-			-	Centre B13 (unpublished)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1		Severe	-			-	Centre B24 (unpublished)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6		Severe	-			-	Centre B14 (unpublished)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