EAHAD Factor VIII Variant Database

Search Results: 3 unique variants retrieved

c.6505C>T

p.(Arg2169Cys) (Legacy AA No.2150)

Variant Type:

Point

Domain:

Sequence Context:

CGT > TGT

Variant Effect:

Missense

Location:

Exon 23

No of bases:

No. of cases reported:

Allele Frequency (MAF):

5.5E-6

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	FVIII:Ag(%)	Type I/II	Severity	Comments	Inhibitors	Reference	Reporting Centre
4161	47	12	I	Mild		No	Centre A6 (unpublished)
4162	25			Mild		No	Habart et al (2003)	Czech Republic
4163	34			Mild			Liu et al (2000)	United States
4164	30	30	I	Mild	Impaired vWf binding in C1		Liu et al (2000)	United States
4165	33			Mild			Liu et al (2000)	United States
7737	47			Mild		No	Johnsen et al (2017)	United States
7738	46			Mild		No	Johnsen et al (2017)	United States
7739	42			Mild		No	Johnsen et al (2017)	United States
7740	30			Mild		No	Johnsen et al (2017)	United States
7741	16			Mild		No	Johnsen et al (2017)	United States
7742	29			Mild		No	Johnsen et al (2017)	United States
7743	22.3			Mild		No	Johnsen et al (2017)	United States
7744	20			Mild			Johnsen et al (2017)	United States
7745	25			Mild		No	Johnsen et al (2017)	United States
7746	39			Mild			Johnsen et al (2017)	United States
7747	19			Mild		No	Johnsen et al (2017)	United States
10310				Mild			Lannoy et al (2012)	Belgium
10475				Mild		No	Centre A11 (unpublished)

c.6506G>A

p.(Arg2169His) (Legacy AA No.2150)

Variant Type:

Point

Domain:

Sequence Context:

CGT > CAT

Variant Effect:

Missense

Location:

Exon 23

No of bases:

No. of cases reported:

182

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	FVIII:Ag(%)	Type I/II	Severity	Comments	Inhibitors	Reference	Reporting Centre
4166				Mild/Moderate		No	Centre A26 (unpublished)
4167				Mild/Moderate		No	Centre A26 (unpublished)
4168				Mild			Arruda et al (1995)	Brazil
4169	2 to 4			Moderate	unrelated	No	Bogdanova et al (2007)	Germany
4170				Mild	unrelated	No	Bogdanova et al (2007)	Germany
4171				Mild	unrelated	No	Bogdanova et al (2007)	Germany
4172				Mild	unrelated	No	Bogdanova et al (2007)	Germany
4173				Mild	unrelated	No	Bogdanova et al (2007)	Germany
4174	7	<1.5		Mild		Yes	Casana et al (2008)	Spain
4175				Mild		No	Castaman et al (2007)	Italy
4176	7	14	II	Mild		No	Castaman et al (2009)	Italy
4177	5			Moderate			Chan et al (1996)	China
4178	5			Moderate		No	Cutler et al (2002)	United Kingdom
4179	6			Moderate		No	Cutler et al (2002)	United Kingdom
4180							Cutler et al (2002)	United Kingdom
4181							Cutler et al (2002)	United Kingdom
4182	10			Mild			Cutler et al (2002)	United Kingdom
4183							Cutler et al (2002)	United Kingdom
4184	5	1	I	Mild		No	David et al (2006)	Portugal
4185				Mild		No	Diamond et al (1992)	United States
4186				Mild			Diamond et al (1992)	United States
4187				Moderate		Yes	Fernandez-Lopez et al (2005)	Spain
4188				Mild		No	Fernandez-Lopez et al (2005)	Spain
4189				Mild		Yes	Fernandez-Lopez et al (2005)	Spain
4190				Mild		No	Fernandez-Lopez et al (2005)	Spain
4191				Mild		No	Fernandez-Lopez et al (2005)	Spain
4192				Mild		Yes	Fernandez-Lopez et al (2005)	Spain
4193	10			Mild		No	Margaglione et al (2008)
4194	3			Moderate		No	Margaglione et al (2008)
4195	8			Mild		No	Margaglione et al (2008)
4196	2			Moderate		No	Margaglione et al (2008)
4197	7			Mild		No	Margaglione et al (2008)
4198					carrier		Centre A24 (unpublished)
4199	2			Severe		No	Goodeve et al (2000)	United Kingdom
4200	6			Mild		Yes	Green et al (2008)	United Kingdom
4201	2			Moderate		Yes	Green et al (2008)	United Kingdom
4202	12			Mild			Green et al (2008)	United Kingdom
4203	6			Mild		No	Green et al (2008)	United Kingdom
4204	10			Mild		No	Green et al (2008)	United Kingdom
4205	5			Moderate	carrier - no patient available		Green et al (2008)	United Kingdom
4206	8			Mild		No	Green et al (2008)	United Kingdom
4207	2			Moderate		No	Green et al (2008)	United Kingdom
4208	7			Mild		No	Green et al (2008)	United Kingdom
4209	13			Mild			Green et al (2008)	United Kingdom
4210	6 to 7	10	II	Mild		No	Habart et al (2003)	Czech Republic
4211	9			Mild/Moderate	brothers	Yes	Hay et al (1998)	United Kingdom
4212	12			Mild/Moderate	brothers	Yes	Hay et al (1998)	United Kingdom
4213	5 to 7			Mild/Moderate		No	Higuchi et al (1991a)	United States
4214	5 to 7			Mild/Moderate		No	Higuchi et al (1991a)	United States
4215	5 to 7			Mild/Moderate		No	Higuchi et al (1991a)	United States
4216	5 to 7			Mild/Moderate		No	Higuchi et al (1991a)	United States
4217	3			Mild	related; two brothers		Jacquemin et al (2000)	Belgium
4218	9			Mild	related; two brothers		Jacquemin et al (2000)	Belgium
4219	9	12	I	Mild	Impaired vWf binding in C1		Jacquemin et al (2000)	Belgium
4220	6			Mild	Impaired vWf binding in C1	No	Jonsdottir et al (1992)	Iceland
4221	6			Mild	Impaired vWf binding in C1		Centre A5 (unpublished)
4222	3			Moderate			Centre A5 (unpublished)
4223				Mild/Moderate		Yes	Laprise et al (1998)	United States
4224	8			Severe		No	Centre A10 (unpublished)
4225	1 to 4			Moderate		No	Centre A10 (unpublished)
4226							Centre A10 (unpublished)
4227	2			Moderate		No	Centre A10 (unpublished)
4228	15			Mild		No	Centre A10 (unpublished)
4229	4			Moderate		No	Centre A10 (unpublished)
4230				Mild		No	Centre A10 (unpublished)
4231	40			Mild		No	Centre A10 (unpublished)
4232	3			Moderate		No	Centre A10 (unpublished)
4233	2			Moderate			Centre A10 (unpublished)
4234	25			Mild			Lin et al (2008)	Taiwan
4235	2.9			Moderate			Lin et al (2008)	Taiwan
4236	3			Moderate			Lin et al (2008)	Taiwan
4237	3			Moderate			Liu et al (1997)	China
4238	3			Moderate			Liu et al (1997)	China
4239	3			Moderate			Liu et al (1997)	China
4240	4			Mild		Yes	Liu et al (2002)	United States
4241	5			Moderate		Yes	Liu et al (2002)	United States
4242	13			Mild		Yes	Liu et al (2002)	United States
4243	5			Moderate		Yes	Liu et al (2002)	United States
4244	5			Mild		Yes	Liu et al (2002)	United States
4245	5	6	I	Moderate			Morichika et al (1997)	Japan
4246	5.6	50	II	Moderate		No	Nair et al (2010)	India
4247	1 to 2			Moderate/Severe		No	Naylor et al (1993)	United Kingdom
4248				Mild/Moderate	7 reports in 5 families	Yes	Repesse et al (2007)	France
4249	5	<1		Mild			Rodgers et al (2007)	Australia
4250				Mild	unrelated	Yes	Salviato et al (2007)	Italy
4251				Moderate	unrelated	Yes	Salviato et al (2007)	Italy
4252	7			Mild			Centre A16 (unpublished)
4253	<1			Mild		Yes	Santagostino et al (1995)	Italy
4254	<1			Mild		Yes	Santagostino et al (1995)	Italy
4255	5			Moderate		No	Schwaab et al (1995a)	Germany
4256	3			Moderate		No	Schwaab et al (1995a)	Germany
4257	<1			Severe		No	Centre A29 (unpublished)
4258	2			Moderate		No	Strmecki et al (1999)	Slovenia
4259	10			Mild			Tavassoli et al (1998a)	Germany
4260	11			Mild			Tavassoli et al (1998a)	Germany
4261	19			Mild		No	Theophilus et al (2001)	United Kingdom
4262	8			Mild		No	Vidal et al (2001)	Spain
4263	10			Moderate		No	Waseem et al (1999)	United Kingdom
4264	10			Moderate		No	Waseem et al (1999)	United Kingdom
4265	5			Moderate		No	Waseem et al (1999)	United Kingdom
4266	28			Mild	unrelated	No	Bogdanova et al (2007)	Germany
4267	26			Mild	unrelated	No	Bogdanova et al (2007)	Germany
5289	5			Moderate		Yes	Centre A25 (unpublished)
7748	4			Moderate		No	Johnsen et al (2017)	United States
7749	4			Moderate		No	Johnsen et al (2017)	United States
7750	6			Mild		No	Johnsen et al (2017)	United States
7751	5			Moderate			Johnsen et al (2017)	United States
7752	6			Mild		Yes	Johnsen et al (2017)	United States
7753	7			Mild		No	Johnsen et al (2017)	United States
7754	1			Moderate		No	Johnsen et al (2017)	United States
7755	2			Moderate		No	Johnsen et al (2017)	United States
7756	1			Moderate			Johnsen et al (2017)	United States
7757	2			Moderate		No	Johnsen et al (2017)	United States
7758	3			Moderate		No	Johnsen et al (2017)	United States
7759	4.5			Moderate		Yes	Johnsen et al (2017)	United States
7760	1			Moderate		Yes	Johnsen et al (2017)	United States
7761	2			Moderate		No	Johnsen et al (2017)	United States
7762	2			Moderate		Yes	Johnsen et al (2017)	United States
7763	7			Mild		Yes	Johnsen et al (2017)	United States
7764	7			Mild		No	Johnsen et al (2017)	United States
7765	9			Mild		No	Johnsen et al (2017)	United States
7766	1			Moderate		Yes	Johnsen et al (2017)	United States
7767	4.57			Moderate		No	Johnsen et al (2017)	United States
7768	5.67			Mild		No	Johnsen et al (2017)	United States
7769	4.27			Moderate		Yes	Johnsen et al (2017)	United States
7770	4			Moderate		Yes	Johnsen et al (2017)	United States
7771	5			Moderate		No	Johnsen et al (2017)	United States
7772	2			Moderate		Yes	Johnsen et al (2017)	United States
7773	10			Mild		Yes	Johnsen et al (2017)	United States
7774	5			Moderate		Yes	Johnsen et al (2017)	United States
7775	3			Moderate		No	Johnsen et al (2017)	United States
7776	2			Moderate		No	Johnsen et al (2017)	United States
7777	6			Mild		No	Johnsen et al (2017)	United States
7778	1			Moderate			Johnsen et al (2017)	United States
7779	11			Mild		No	Johnsen et al (2017)	United States
7780	4			Moderate		No	Johnsen et al (2017)	United States
7781	6			Mild		No	Johnsen et al (2017)	United States
7782	<1			Severe		No	Johnsen et al (2017)	United States
7783	4			Moderate		No	Johnsen et al (2017)	United States
7784	3.5			Moderate		No	Johnsen et al (2017)	United States
7785	3			Moderate		No	Johnsen et al (2017)	United States
7786	6			Mild		No	Johnsen et al (2017)	United States
7787	4			Moderate		No	Johnsen et al (2017)	United States
7788	5			Moderate		Yes	Johnsen et al (2017)	United States
7789	8			Mild		No	Johnsen et al (2017)	United States
7790	2			Moderate		No	Johnsen et al (2017)	United States
7791	1.9			Moderate		No	Johnsen et al (2017)	United States
7792	7			Mild		No	Johnsen et al (2017)	United States
7793	8			Mild		No	Johnsen et al (2017)	United States
7794	2			Moderate		No	Johnsen et al (2017)	United States
7795	7			Mild		No	Johnsen et al (2017)	United States
7796	8			Mild		No	Johnsen et al (2017)	United States
7797	9			Mild		No	Johnsen et al (2017)	United States
7798	3			Moderate		No	Johnsen et al (2017)	United States
7799	4			Moderate		No	Johnsen et al (2017)	United States
7800	7			Mild		No	Johnsen et al (2017)	United States
7801	5			Moderate		No	Johnsen et al (2017)	United States
7802	3			Moderate		No	Johnsen et al (2017)	United States
7803	3			Moderate		Yes	Johnsen et al (2017)	United States
7804	1			Moderate		Yes	Johnsen et al (2017)	United States
7805	3			Moderate		No	Johnsen et al (2017)	United States
7806	5			Moderate		No	Johnsen et al (2017)	United States
7807	6			Mild		No	Johnsen et al (2017)	United States
7808	5			Moderate		No	Johnsen et al (2017)	United States
7809	6			Mild		No	Johnsen et al (2017)	United States
7810	3			Moderate			Johnsen et al (2017)	United States
7811	8			Mild		No	Johnsen et al (2017)	United States
7812	3			Moderate		No	Johnsen et al (2017)	United States
7813	8			Mild		No	Johnsen et al (2017)	United States
7814	5			Moderate			Johnsen et al (2017)	United States
7815	3			Moderate		No	Johnsen et al (2017)	United States
7816	4			Moderate		No	Johnsen et al (2017)	United States
7817	5			Moderate			Johnsen et al (2017)	United States
7818	2			Moderate		No	Johnsen et al (2017)	United States
7819	6			Mild		No	Johnsen et al (2017)	United States
7820	8			Mild		No	Johnsen et al (2017)	United States
9167				Mild		No	Boekhorst et al (2005)	Netherlands
9168				Moderate		No	Boekhorst et al (2005)	Netherlands
9575				Severe		No	Margaglione et al (2008)	Italy
10311				Mild			Lannoy et al (2012)	Belgium
10476	4			Moderate		No	Centre A11 (unpublished)
10477	12			mi		No	Centre A11 (unpublished)

c.6506G>T

p.(Arg2169Leu) (Legacy AA No.2150)

Variant Type:

Point

Domain:

Sequence Context:

CGT > CTT

Variant Effect:

Missense

Location:

Exon 23

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	Severity	Inhibitors	Reference	Reporting Centre
8733	33	Mild	No	Johnsen et al (2017)	United States
8734	21	Mild	No	Johnsen et al (2017)	United States
8735	19	Mild	No	Johnsen et al (2017)	United States
9628		Mild		Margaglione et al (2008)	Italy

Factor VIII Gene (F8) Variant Database