EAHAD Factor VIII Variant Database

Search Results: 4 unique variants retrieved

c.6544C>T

p.(Arg2182Cys) (Legacy AA No.2163)

Variant Type:

Point

Domain:

Sequence Context:

CGC > TGC

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
4366				Moderate		No	Bogdanova et al (2007)	Germany
4367	3			Moderate			Citron et al (2002)	United States
4368	<1			Severe			Citron et al (2002)	United States
4369	2			Moderate			Citron et al (2002)	United States
4370				Severe			Cutler et al (2002)	United Kingdom
4371	<1			Severe		No	Green et al (2008)	United Kingdom
4372	<1			Severe		No	Green et al (2008)	United Kingdom
4373	1			Severe		No	Green et al (2008)	United Kingdom
4374	<1 to 2					No	Habart et al (2003)	Czech Republic
4375	1	9	II	Severe		No	Ivaskevicius et al (2001)	Lithuania
4376	<1			Severe		No	Jayandharan et al (2009)	India
4377	<1			Severe		No	Jayandharan et al (2009)	India
4378				Severe	somatic mosaic		Leuer et al (2001)	Germany
4379	<1			Severe		No	Centre A10 (unpublished)
4380	1	1	I	Moderate		No	Reiner et al (1992a)	United States
4381	1			Severe		No	Timur et al (2001)	Turkey
7860	<1			Severe		No	Johnsen et al (2017)	United States
7861	<1			Severe		Yes	Johnsen et al (2017)	United States
7862	<1			Severe		No	Johnsen et al (2017)	United States
7863	1			Moderate			Johnsen et al (2017)	United States
7864	<1			Severe		Yes	Johnsen et al (2017)	United States
7865	<1			Severe		No	Johnsen et al (2017)	United States
7866	<1			Severe		No	Johnsen et al (2017)	United States
7867	<1			Severe		No	Johnsen et al (2017)	United States
7868	<1			Severe		No	Johnsen et al (2017)	United States
7869	1			Moderate		No	Johnsen et al (2017)	United States
7870	<1			Severe		No	Johnsen et al (2017)	United States
7871	<1			Severe		No	Johnsen et al (2017)	United States
7872	2			Moderate		No	Johnsen et al (2017)	United States
7873	<1			Severe		No	Johnsen et al (2017)	United States
7874	<1			Severe		No	Johnsen et al (2017)	United States
7875	<1			Severe		No	Johnsen et al (2017)	United States
9173				Moderate		No	Boekhorst et al (2005)	Netherlands
9577				Severe			Margaglione et al (2008)	Italy
9578				Severe			Margaglione et al (2008)	Italy
9696	< 1	< 1		Severe		No	Guillet et al (2006)	France
9697	< 1	< 1		Severe		No	Guillet et al (2006)	France
9698	< 1	< 1		Severe		No	Guillet et al (2006)	France
10170	<1			Severe		No	Gouw et al (2011)	Netherlands
10171	<1			Severe		No	Gouw et al (2011)	Netherlands
10172	<1			Severe		No	Gouw et al (2011)	Netherlands
10321				Mild			Lannoy et al (2012)	Belgium
10322				Mild			Lannoy et al (2012)	Belgium
10323				Mild			Lannoy et al (2012)	Belgium

c.6544C>G

p.(Arg2182Gly) (Legacy AA No.2163)

Variant Type:

Point

Domain:

Sequence Context:

CGC > GGC

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:C% (2-st/Chr)	Assay Ratio (1-st/2-st)	FVIII:Ag(%)	Type I/II	Severity	Comments	Inhibitors	Reference	Reporting Centre
4365	<1					Severe		No	Vinciguerra et al (2006)	France

c.6545G>A

p.(Arg2182His) (Legacy AA No.2163)

Variant Type:

Point

Domain:

Sequence Context:

CGC > CAC

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(%)	Severity	Comments	Inhibitors	Reference	Reporting Centre
4382	<1		Severe		No	Ahmed et al (2005)	India
4383	2		Severe		No	Ahmed et al (2005)	India
4384			Severe		No	Centre A18 (unpublished)
4385	<1		Severe		No	Bogdanova et al (2005)	Germany
4386	<1		Severe		No	Bogdanova et al (2005)	Germany
4387			Mild		No	Bogdanova et al (2007)	Germany
4388	4.5	<1	Moderate		No	Casana et al (2008)	Spain
4389	<1		Severe		No	Margaglione et al (2008)
4390	2		Moderate		No	Green et al (2008)	United Kingdom
4391	<1		Severe		No	Green et al (2008)	United Kingdom
4392	3		Mild/Moderate		Yes	Hay et al (1998)	United Kingdom
4393	<1		Severe		No	Hill et al (2005)	United Kingdom
4394	<1		Severe		No	Jayandharan et al (2009)	India
4395	<1		Severe		No	Jayandharan et al (2009)	India
4396	<1		Severe		No	Jayandharan et al (2009)	India
4397	<1		Severe			Centre A5 (unpublished)
4398	<1		Severe			Centre A5 (unpublished)
4399			Severe			Laprise et al (1998)	United States
4400	<1		Severe		No	Centre A10 (unpublished)
4401	<1		Severe		No	Centre A10 (unpublished)
4402	2.5		Moderate			Lin et al (2008)	Taiwan
4403	<1		Severe	unrelated	No	Sirocova et al (2009)	Moldova
4404	1		Severe	unrelated	No	Sirocova et al (2009)	Moldova
4405	6		Moderate		No	Theophilus et al (1998)	United Kingdom
4406	6		Moderate		No	Theophilus et al (1998)	United Kingdom
4407	<1		Severe		No	Theophilus et al (1998)	United Kingdom
4408	1		Severe		No	Theophilus et al (2001)	United Kingdom
4409	2		Moderate		No	Timur et al (2001)	Turkey
4410	2		Moderate		No	Timur et al (2001)	Turkey
4411	1		Severe		No	Timur et al (2001)	Turkey
4412	2		Moderate		No	Vidal et al (2001)	Spain
4413	4		Moderate		Yes	Waseem et al (1999)	United Kingdom
4414	3		Moderate		No	Timur et al (2001)	Turkey
5290	<1		Severe	unrelated; also has p.Asp1260Glu poly	No	Centre A25 (unpublished)
5291	1.5		Moderate	related	No	Centre A25 (unpublished)
5292	<1		Severe	related	No	Centre A25 (unpublished)
7876	<1		Severe		No	Johnsen et al (2017)	United States
7877	2		Moderate		No	Johnsen et al (2017)	United States
7878	<1		Severe		No	Johnsen et al (2017)	United States
7879	1		Moderate		No	Johnsen et al (2017)	United States
7880	<1		Severe		No	Johnsen et al (2017)	United States
7881	1		Moderate		No	Johnsen et al (2017)	United States
7882	<1		Severe		No	Johnsen et al (2017)	United States
7883	<1		Severe		No	Johnsen et al (2017)	United States
7884	<1		Severe		No	Johnsen et al (2017)	United States
7885	<1		Severe		No	Johnsen et al (2017)	United States
7886	<1		Severe		No	Johnsen et al (2017)	United States
7887	<1		Severe		No	Johnsen et al (2017)	United States
7888	2		Moderate		No	Johnsen et al (2017)	United States
7889	2		Moderate		No	Johnsen et al (2017)	United States
7890	<1		Severe		No	Johnsen et al (2017)	United States
9579			Severe		No	Margaglione et al (2008)	Italy
9580			Severe		No	Margaglione et al (2008)	Italy
9581			Severe		No	Margaglione et al (2008)	Italy
9582			Severe		No	Margaglione et al (2008)	Italy
9583			Severe			Margaglione et al (2008)	Italy
9584			Severe			Margaglione et al (2008)	Italy
9585			Moderate		No	Margaglione et al (2008)	Italy
9586			Moderate		No	Margaglione et al (2008)	Italy
9587			Moderate		No	Margaglione et al (2008)	Italy
9588			Moderate		No	Margaglione et al (2008)	Italy
9589			Moderate			Margaglione et al (2008)	Italy
9590						Margaglione et al (2008)	Italy
9591						Margaglione et al (2008)	Italy
9699	< 1		Severe		No	Guillet et al (2006)	France
9918			Moderate		No	Viel et al (2009)	United States
10173	<1		Severe		No	Gouw et al (2011)	Netherlands

c.6545G>T

p.(Arg2182Leu) (Legacy AA No.2163)

Variant Type:

Point

Domain:

Sequence Context:

CGC > CTC

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
8738	2.6	Moderate	No	Johnsen et al (2017)	United States
10174	<1	Severe	No	Gouw et al (2011)	Netherlands
10175	<1	Severe	No	Gouw et al (2011)	Netherlands

Factor VIII Gene (F8) Variant Database