EAHAD Factor VIII Variant Database

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

c.6532C>T

p.(Arg2178Cys) (Legacy AA No.2159)

Variant Type:

Point

Domain:

Sequence Context:

CGC > TGC

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)	FVIII:Ag(%)	Type I/II	Severity	Comments	Inhibitors	Reference	Reporting Centre
4280				Moderate			Arruda et al (1995)	Brazil
4281				Mild			Bogdanova et al (2001)	Germany
4282	8			Mild		No	Bogdanova et al (2007)	Germany
4283	33			Mild		No	Bogdanova et al (2007)	Germany
4284	28	19	I	Mild	unrelated		Castaman et al (2009)	Italy
4285	15	14	I	Mild	unrelated		Castaman et al (2009)	Italy
4286	23	19	I	Mild	unrelated		Castaman et al (2009)	Italy
4287				Mild			Cutler et al (2002)	United Kingdom
4288							Cutler et al (2002)	United Kingdom
4289				Mild		No	David et al (2006)	Portugal
4290	11			Mild			De Brasi et al (conference abstract)	Argentina
4291				Mild		No	Diamond et al (1992)	United States
4292	10			Mild		No	Diamond et al (1992)	United States
4293	17			Mild		No	Centre A6 (unpublished)
4294	27	16	I	Mild		No	Centre A6 (unpublished)
4295	12			Mild		No	Centre A35 (unpublished)
4296	27			Mild		No	Green et al (2008)	United Kingdom
4297	11			Mild		No	Green et al (2008)	United Kingdom
4298	12			Mild		No	Green et al (2008)	United Kingdom
4299	3			Moderate		No	Green et al (2008)	United Kingdom
4300	10			Mild		Yes	Green et al (2008)	United Kingdom
4301	4			Moderate		No	Green et al (2008)	United Kingdom
4302	30			Mild		No	Green et al (2008)	United Kingdom
4303	8			Mild		No	Green et al (2008)	United Kingdom
4304	13 to 26			Mild		No	Habart et al (2003)	Czech Republic
4305	7			Moderate			Higuchi et al (1991a)	United States
4306	11			Mild		No	Jayandharan et al (2005)	India
4307	11 to 16			Mild		No	Jonsdottir et al (1992)	Iceland
4308	9 to 12			Mild		No	Jonsdottir et al (1992)	Iceland
4309	11 to 19			Mild		No	Jonsdottir et al (1992)	Iceland
4310	15			Mild			Centre A5 (unpublished)
4311	14			Mild	female		Centre A5 (unpublished)
4312					low level female also p.Glu340Lys		Centre A5 (unpublished)
4313	17			Mild			Centre A5 (unpublished)
4314	25			Mild			Centre A5 (unpublished)
4315				Mild		No	Klopp et al (2002)	Germany
4316	8			Mild		No	Laurie et al (2007)	New Zealand
4317	6			Mild		No	Laurie et al (2007)	New Zealand
4318	14			Mild		No	Laurie et al (2007)	New Zealand
4319	13			Mild		No	Laurie et al (2007)	New Zealand
4320				Mild		No	Centre A10 (unpublished)
4321	8			Mild			Centre A10 (unpublished)
4322	10			Mild		No	Centre A10 (unpublished)
4323	20			Mild		No	Centre A10 (unpublished)
4324							Centre A10 (unpublished)
4325						No	Centre A10 (unpublished)
4326	6.5			Mild			Lin et al (2008)	Taiwan
4327	8.9			Mild			Lin et al (2008)	Taiwan
4328	8.4			Mild	Impaired vWf binding in C1		Lin et al (2008)	Taiwan
4329	20	104	II	Mild	Impaired vWf binding in C1		Liu et al (2000)	United States
4330	10			Mild		No	Centre A11 (unpublished)
4331	10	6	I	Mild		No	McGinniss et al (1993)	United States
4332	12			Mild	female	No	Naylor et al (1993)	United Kingdom
4333	13			Mild	related	No	Nesbitt et al (conference abstract)	United Kingdom
4334				Mild	related	No	Repesse et al (2007)	France
4335				Mild	related	No	Repesse et al (2007)	France
4336				Mild	unrelated	No	Repesse et al (2007)	France
4337	<1	0.7	I	Severe		No	Santagostino et al (2010)	Italy
4338	11	15	I	Mild		No	Schwaab et al (1995a)	Germany
4339	15	16	I	Mild		No	Schwaab et al (1995a)	Germany
4340	6	9	II	Mild		No	Schwaab et al (1995a)	Germany
4341	12	7	I	Mild		No	Suzuki et al (1997)	Japan
4342	5			Mild		No	Timur et al (2001)	Turkey
4343	14			Mild		No	Waseem et al (1999)	United Kingdom
4344	25			Mild		No	Waseem et al (1999)	United Kingdom
4345	16			Mild		No	Waseem et al (1999)	United Kingdom
4346				Mild		No	Waseem et al (1999)	United Kingdom
4347	10			Mild		No	Waseem et al (1999)	United Kingdom
4348	7			Moderate		No	Waseem et al (1999)	United Kingdom
7827	7			Mild		No	Johnsen et al (2017)	United States
7828	12			Mild		No	Johnsen et al (2017)	United States
7829	11			Mild		No	Johnsen et al (2017)	United States
7830	21			Mild			Johnsen et al (2017)	United States
7831	9			Mild		No	Johnsen et al (2017)	United States
7832	14			Mild		No	Johnsen et al (2017)	United States
7833	6			Mild		No	Johnsen et al (2017)	United States
7834	13			Mild		No	Johnsen et al (2017)	United States
7835	14			Mild		No	Johnsen et al (2017)	United States
9170				Mild		No	Boekhorst et al (2005)	Netherlands
9171				Mild		No	Boekhorst et al (2005)	Netherlands
9172				Mild		No	Boekhorst et al (2005)	Netherlands
10312				Mild			Lannoy et al (2012)	Belgium
10313				Mild			Lannoy et al (2012)	Belgium
10314				Mild			Lannoy et al (2012)	Belgium
10315				Mild			Lannoy et al (2012)	Belgium
10316				Mild			Lannoy et al (2012)	Belgium
10317				Mild			Lannoy et al (2012)	Belgium
10318				Mild	female		Lannoy et al (2012)	Belgium
10478	5			Mild		No	Centre A11 (unpublished)
10479	15			Mild		No	Centre A11 (unpublished)
10480				Mild		No	Centre A11 (unpublished)
10481				Moderate		No	Centre A11 (unpublished)
10482				Mild		No	Centre A11 (unpublished)

c.6533G>A

p.(Arg2178His) (Legacy AA No.2159)

Variant Type:

Point

Domain:

Sequence Context:

CGC > CAC

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
4349	40			Mild		No	Bogdanova et al (2007)	Germany
4350	33			Mild		No	Green et al (2008)	United Kingdom
4351	22			Mild		No	Green et al (2008)	United Kingdom
4352	17			Mild		No	Green et al (2008)	United Kingdom
4353	22 to 37			Mild		No	Habart et al (2003)	Czech Republic
4354	25	10	I	Mild		No	Laurie et al (2007)	New Zealand
4355					heterozygote		Centre A10 (unpublished)
4356	36			Mild		No	Centre A11 (unpublished)
4357	22	12	I	Mild		No	Schwaab et al (1995a)	Germany
4358					found in non-haem genetic screen		Tarpey et al (2009)	United Kingdom
4359	22			Mild		No	Waseem et al (1999)	United Kingdom
7836	13			Mild		No	Johnsen et al (2017)	United States
7837	32			Mild		No	Johnsen et al (2017)	United States
7838	16			Mild		No	Johnsen et al (2017)	United States
7839	22			Mild		No	Johnsen et al (2017)	United States
7840	30			Mild		No	Johnsen et al (2017)	United States
7841	32			Mild		No	Johnsen et al (2017)	United States
7842	38			Mild		No	Johnsen et al (2017)	United States
7843	36			Mild		No	Johnsen et al (2017)	United States
7844	17			Mild		No	Johnsen et al (2017)	United States
7845	14			Mild		No	Johnsen et al (2017)	United States
9576				Moderate			Margaglione et al (2008)	Italy
10319				Mild			Lannoy et al (2012)	Belgium
10320				Mild			Lannoy et al (2012)	Belgium
10483				Mild		No	Centre A11 (unpublished)
10484	22			Mild		No	Centre A11 (unpublished)

c.6533G>T

p.(Arg2178Leu) (Legacy AA No.2159)

Variant Type:

Point

Domain:

Sequence Context:

CGC > CTC

Variant Effect:

Missense

Location:

Exon 23

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Case ID	FVIII:C% (presumed 1-st)	FVIII:Ag(%)	Type I/II	Severity	Inhibitors	Reference	Reporting Centre
4360	12	15	I	Mild	No	Schwaab et al (1995a)	Germany
4361	25			Mild	No	Schwaab et al (1995a)	Germany
7846	10			Mild	No	Johnsen et al (2017)	United States
7847	10			Mild		Johnsen et al (2017)	United States
7848	12			Mild	No	Johnsen et al (2017)	United States
7849	6			Mild		Johnsen et al (2017)	United States
7850	5			Moderate	No	Johnsen et al (2017)	United States
7851	17			Mild	No	Johnsen et al (2017)	United States
7852	10			Mild	No	Johnsen et al (2017)	United States
7853	13			Mild	No	Johnsen et al (2017)	United States
7854	21			Mild	No	Johnsen et al (2017)	United States
7855	9			Mild	No	Johnsen et al (2017)	United States
7856	31			Mild	No	Johnsen et al (2017)	United States
7857	14			Mild	No	Johnsen et al (2017)	United States
7858	2			Moderate		Johnsen et al (2017)	United States

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

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

UNIQUE (Without Case Data) :

EXCEL/CSV

SCREEN TABLE

MULTIPLE (With Case Data) :

EXCEL/CSV

SCREEN TABLE