EAHAD Factor VIII Variant Database

Search Results: 3 unique variants retrieved

c.2167G>A

p.(Ala723Thr) (Legacy AA No.704)

Variant Type:

Point

Domain:

Sequence Context:

GCC > ACC

Variant Effect:

Missense

Location:

Exon 14

No of bases:

No. of cases reported:

144

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
2100	4			Moderate	all unrelated	No	Bogdanova et al (2007)	Germany
2101	10			Mild	all unrelated	No	Bogdanova et al (2007)	Germany
2102				Mild	all unrelated	No	Bogdanova et al (2007)	Germany
2103	8			Mild	all unrelated	No	Bogdanova et al (2007)	Germany
2104	2			Moderate		No	Cutler et al (2002)	United Kingdom
2105	12			Mild		No	Cutler et al (2002)	United Kingdom
2106	13			Mild		No	David et al (2006)	Portugal
2107				Mild		No	Fernandez-Lopez et al (2005)	Spain
2108	2			Moderate		No	Centre A6 (unpublished)
2109	2			Moderate		No	Centre A6 (unpublished)
2110	3			Moderate		No	Centre A6 (unpublished)
2111	9			Mild		No	Green et al (2008)	United Kingdom
2112	9			Mild	female		Green et al (2008)	United Kingdom
2113	19			Mild		No	Green et al (2008)	United Kingdom
2114	5			Moderate		No	Green et al (2008)	United Kingdom
2115	11			Mild		No	Green et al (2008)	United Kingdom
2116				Mild		No	Higuchi et al (1991b)	United States
2117				Mild		No	Higuchi et al (1991b)	United States
2118					detected in carrier only		Centre A5 (unpublished)
2119	19			Mild			Liu et al (1997)	China
2120				Mild		No	Centre A11 (unpublished)
2121	4.2			Moderate	unrelated		Margaglione et al (2008)
2122	5			Moderate	unrelated		Margaglione et al (2008)
2123	14			Mild	unrelated		Margaglione et al (2008)
2124	5	6	I	Moderate		No	Schwaab et al (1995a)	Germany
6880	4			Moderate		No	Johnsen et al (2017)	United States
6881	3			Moderate		No	Johnsen et al (2017)	United States
6882	4			Moderate		No	Johnsen et al (2017)	United States
6883	13			Mild			Johnsen et al (2017)	United States
6884	8			Mild		No	Johnsen et al (2017)	United States
6885	13			Mild		No	Johnsen et al (2017)	United States
6886	5			Moderate			Johnsen et al (2017)	United States
6887	10			Mild			Johnsen et al (2017)	United States
6888	7			Mild		No	Johnsen et al (2017)	United States
6889	4			Moderate			Johnsen et al (2017)	United States
6890	6			Mild		No	Johnsen et al (2017)	United States
6891	5			Moderate		No	Johnsen et al (2017)	United States
6892	2			Moderate		No	Johnsen et al (2017)	United States
6893	12			Mild		No	Johnsen et al (2017)	United States
6894	4			Moderate		No	Johnsen et al (2017)	United States
6895	4			Moderate		No	Johnsen et al (2017)	United States
6896	5			Moderate		No	Johnsen et al (2017)	United States
6897	3			Moderate			Johnsen et al (2017)	United States
6898	3			Moderate		No	Johnsen et al (2017)	United States
6899	7.67			Mild		No	Johnsen et al (2017)	United States
6900	13			Mild		No	Johnsen et al (2017)	United States
6901	2			Moderate		No	Johnsen et al (2017)	United States
6902	4			Moderate		No	Johnsen et al (2017)	United States
6903	4			Moderate		No	Johnsen et al (2017)	United States
6904	3			Moderate			Johnsen et al (2017)	United States
6905	18			Mild		No	Johnsen et al (2017)	United States
6906	8			Mild		No	Johnsen et al (2017)	United States
6907	5			Moderate		No	Johnsen et al (2017)	United States
6908	1			Moderate		No	Johnsen et al (2017)	United States
6909	12			Mild		No	Johnsen et al (2017)	United States
6910	6			Mild		No	Johnsen et al (2017)	United States
6911	2			Moderate		No	Johnsen et al (2017)	United States
6912	1			Moderate		No	Johnsen et al (2017)	United States
6913	3			Moderate		No	Johnsen et al (2017)	United States
6914	8			Mild		No	Johnsen et al (2017)	United States
6915	5			Moderate		No	Johnsen et al (2017)	United States
6916	7			Mild		No	Johnsen et al (2017)	United States
6917	11			Mild			Johnsen et al (2017)	United States
6918	4			Moderate		No	Johnsen et al (2017)	United States
6919	15			Mild		No	Johnsen et al (2017)	United States
6920	9.07			Mild		No	Johnsen et al (2017)	United States
6921	7			Mild		No	Johnsen et al (2017)	United States
6922	6			Mild		No	Johnsen et al (2017)	United States
6923	5			Moderate		No	Johnsen et al (2017)	United States
6924	9			Mild		No	Johnsen et al (2017)	United States
6925	4			Moderate		Yes	Johnsen et al (2017)	United States
6926	5.1			Mild		No	Johnsen et al (2017)	United States
6927	5			Moderate		No	Johnsen et al (2017)	United States
6928	4			Moderate		No	Johnsen et al (2017)	United States
6929	3			Moderate		No	Johnsen et al (2017)	United States
6930	11			Mild			Johnsen et al (2017)	United States
6931	10			Mild		No	Johnsen et al (2017)	United States
6932	13			Mild		No	Johnsen et al (2017)	United States
6933	13			Mild			Johnsen et al (2017)	United States
6934	8			Mild		No	Johnsen et al (2017)	United States
6935	5			Moderate		No	Johnsen et al (2017)	United States
6936	6			Mild			Johnsen et al (2017)	United States
6937	4			Moderate		No	Johnsen et al (2017)	United States
6938	6			Mild		No	Johnsen et al (2017)	United States
6939	8			Mild		No	Johnsen et al (2017)	United States
6940	8			Mild		No	Johnsen et al (2017)	United States
6941	17			Mild			Johnsen et al (2017)	United States
6942	8			Mild		No	Johnsen et al (2017)	United States
6943	3			Moderate		No	Johnsen et al (2017)	United States
6944	2			Moderate		No	Johnsen et al (2017)	United States
6945	3			Moderate		No	Johnsen et al (2017)	United States
6946	3			Moderate		No	Johnsen et al (2017)	United States
6947	4			Moderate		No	Johnsen et al (2017)	United States
6948	3			Moderate		No	Johnsen et al (2017)	United States
6949	6			Mild			Johnsen et al (2017)	United States
6950	9			Mild		No	Johnsen et al (2017)	United States
6951	<1			Severe			Johnsen et al (2017)	United States
6952	5			Moderate		No	Johnsen et al (2017)	United States
6953	7			Mild			Johnsen et al (2017)	United States
6954	3			Moderate		No	Johnsen et al (2017)	United States
6955	6			Mild		No	Johnsen et al (2017)	United States
6956	6			Mild		No	Johnsen et al (2017)	United States
6957	6			Mild		No	Johnsen et al (2017)	United States
6958	8			Mild		No	Johnsen et al (2017)	United States
6959	2.5			Moderate		Yes	Johnsen et al (2017)	United States
6960	2.5			Moderate		No	Johnsen et al (2017)	United States
6961	4			Moderate		No	Johnsen et al (2017)	United States
6962	4			Moderate		No	Johnsen et al (2017)	United States
6963	7			Mild		No	Johnsen et al (2017)	United States
6964	2			Moderate			Johnsen et al (2017)	United States
6965	3			Moderate			Johnsen et al (2017)	United States
6966	3			Moderate		No	Johnsen et al (2017)	United States
6967	10			Mild			Johnsen et al (2017)	United States
6968	8			Mild		No	Johnsen et al (2017)	United States
6969	6			Mild		No	Johnsen et al (2017)	United States
6970	8			Mild			Johnsen et al (2017)	United States
6971	6.8			Mild		No	Johnsen et al (2017)	United States
6972	13			Mild		No	Johnsen et al (2017)	United States
6973	9			Mild			Johnsen et al (2017)	United States
6974	9			Mild		No	Johnsen et al (2017)	United States
6975	6			Mild		No	Johnsen et al (2017)	United States
6976	5			Moderate		No	Johnsen et al (2017)	United States
6977	20			Mild			Johnsen et al (2017)	United States
6978	6			Mild		No	Johnsen et al (2017)	United States
6979	5			Moderate		No	Johnsen et al (2017)	United States
6980	4			Moderate		No	Johnsen et al (2017)	United States
6981	9			Mild		No	Johnsen et al (2017)	United States
6982	4			Moderate		No	Johnsen et al (2017)	United States
6983	6			Mild		No	Johnsen et al (2017)	United States
6984	6			Mild		No	Johnsen et al (2017)	United States
6985	4			Moderate			Johnsen et al (2017)	United States
6986	4			Moderate		No	Johnsen et al (2017)	United States
6987	2			Moderate			Johnsen et al (2017)	United States
6988	5			Moderate		No	Johnsen et al (2017)	United States
6989	9			Mild			Johnsen et al (2017)	United States
6990	5			Moderate		No	Johnsen et al (2017)	United States
9476				Severe		No	Margaglione et al (2008)	Italy
9477				Moderate		No	Margaglione et al (2008)	Italy
9478				Moderate		No	Margaglione et al (2008)	Italy
9479				Mild		No	Margaglione et al (2008)	Italy
9480				Mild		No	Margaglione et al (2008)	Italy
9913				Severe		No	Viel et al (2009)	United States
10443	7			Mild		No	Centre A11 (unpublished)
10444				Moderate		No	Centre A11 (unpublished)

c.2168C>A

p.(Ala723Asp) (Legacy AA No.704)

Variant Type:

Point

Domain:

Sequence Context:

GCC > GAC

Variant Effect:

Missense

Location:

Exon 14

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

c.2168C>T

p.(Ala723Val) (Legacy AA No.704)

Variant Type:

Point

Domain:

Sequence Context:

GCC > GTC

Variant Effect:

Missense

Location:

Exon 14

No of bases:

No. of cases reported:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Factor VIII Gene (F8) Variant Database