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.5878C>T

p.(Arg1960*) (Legacy AA No.1941)

Variant Type:

Point

Domain:

Sequence Context:

CGA > TGA

Variant Effect:

Nonsense

Location:

Exon 18

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 18

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	FVIII:Ag(%)	Severity	Comments	Inhibitors	Reference	Reporting Centre
3434	<1		Severe		Yes	Antonarakis et al (1985)	Switzerland
3435			Severe			Centre A26 (unpublished)
3436	<1		Severe		No	Casula et al (1990)	Italy
3437	<1		Severe		Yes	Coppola et al (2009)	Italy
3438	<1		Severe		Yes	David et al (2006)	Portugal
3439	<1		Severe		No	Fernandez-Lopez et al (2005)	Spain
3440	<1		Severe		Yes	Figueiredo et al (1994)	Brazil
3441	4		Moderate		No	Centre A24 (unpublished)
3442			Severe		Yes	Higuchi et al (1989)	Germany
3443	<1		Severe		Yes	Lavergne et al (1992)	France
3444	<1		Severe	also p.Ala1939Val (which could be a poly)	Yes	Liu et al (2002)	United States
3445	<1		Severe		Yes	Liu et al (2002)	United States
3446	<1		Severe		Yes	Centre A11 (unpublished)
3447	<1	<1	Severe		Yes	Mathews et al (conference abstract)	United Kingdom
3448	<1		Severe		Yes	Reiner et al (1992b)	United States
3449			Severe		Yes	Repesse et al (2007)	France
3450			Severe		Yes	Schwaab et al (1993)	Germany
3451			Severe		Yes	Schwaab et al (1995b)	Germany
3452	<1		Severe		No	Waseem et al (1999)	United Kingdom
3453	<1		Severe		No	Youssoufian et al (1986)	United States
7487	1		Moderate		No	Johnsen et al (2017)	United States
7488	<1		Severe		No	Johnsen et al (2017)	United States
7489	1		Moderate		Yes	Johnsen et al (2017)	United States
7490	<1		Severe			Johnsen et al (2017)	United States
7491	<1		Severe			Johnsen et al (2017)	United States
7492	<1		Severe		Yes	Johnsen et al (2017)	United States
7493	<1		Severe		No	Johnsen et al (2017)	United States
9017	<1		Severe	also has Ala1939Val	Yes	Johnsen et al (2017)	United States
9113	1		Moderate		No	Centre A33 (unpublished)
9724	< 1		Severe		Yes	Guillet et al (2006)	France
10504	<1		Severe		No	Centre A11 (unpublished)
10505	<1		Severe		No	Centre A11 (unpublished)

c.5879G>A

p.(Arg1960Gln) (Legacy AA No.1941)

Variant Type:

Point

Domain:

Sequence Context:

CGA > CAA

Variant Effect:

Missense

Location:

Exon 18

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	Inhibitors	Reference	Reporting Centre
3454	4 to 5	20	II	Mild	No	Centre A26 (unpublished)
3455				Moderate		Arruda et al (1995)	Brazil
3456	9			Mild	No	Bogdanova et al (2007)	Germany
3457				Moderate		Castaman et al (2007)	Italy
3458	15	14	I	Mild		Castaman et al (2009)	Italy
3459	7			Mild	No	Centre A24 (unpublished)
3460	10 to 15			Mild	No	Centre A24 (unpublished)
3461	1			Severe	No	Green et al (2008)	United Kingdom
3462	20			Mild	No	Green et al (2008)	United Kingdom
3463	5			Moderate	No	Hua et al (2010)	China
3464	5	20	II	Moderate	No	Inaba et al (1989)	United States
3465	3			Moderate		Krepelova et al (1992b)	Czech Republic
3466				Mild	No	Levinson et al (1990)	United States
3467					No	Centre A10 (unpublished)
3468					No	Centre A10 (unpublished)
3469	<10					Centre A10 (unpublished)
3470	17			Mild	No	Lin et al (1993)	China
3471	7.4			Mild		Lin et al (2008)	Taiwan
3472	5.5			Mild		Lin et al (2008)	Taiwan
3473	15	16	I	Mild	No	Morichika et al (1997)	Japan
3474	2			Moderate	No	Naylor et al (1993)	United Kingdom
5280	4			Moderate	No	Centre A25 (unpublished)
5281	15			Mild	No	Centre A25 (unpublished)
7494	13			Mild	No	Johnsen et al (2017)	United States
7495	33.4			Mild	Yes	Johnsen et al (2017)	United States
7496	7			Mild	No	Johnsen et al (2017)	United States
7497	5			Moderate	No	Johnsen et al (2017)	United States
7498	4.8			Moderate	No	Johnsen et al (2017)	United States
7499	6			Mild	Yes	Johnsen et al (2017)	United States
7500	11			Mild	No	Johnsen et al (2017)	United States
7501	5.4			Mild	Yes	Johnsen et al (2017)	United States
7502	6.1			Mild	No	Johnsen et al (2017)	United States
7503	9			Mild	No	Johnsen et al (2017)	United States
7504	7			Mild	No	Johnsen et al (2017)	United States
7505	7			Mild	No	Johnsen et al (2017)	United States
7506	4.9			Moderate	No	Johnsen et al (2017)	United States
9114	3.8			Moderate	No	Centre A33 (unpublished)
9546				Severe		Margaglione et al (2008)	Italy
10469	20			Mild	Yes	Centre A11 (unpublished)

c.5879G>T

p.(Arg1960Leu) (Legacy AA No.1941)

Variant Type:

Point

Domain:

Sequence Context:

CGA > CTA

Variant Effect:

Missense

Location:

Exon 18

No of bases:

No. of cases reported:

Allele Frequency (MAF):

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