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.1093T>C

p.(Tyr365His) (Legacy AA No.346)

Variant Type:

Point

Domain:

Sequence Context:

TAT > CAT

Variant Effect:

Missense

Location:

Exon 8

No of bases:

No. of cases reported:

Allele Frequency (MAF):

2.18E-5

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

c.1094A>G

p.(Tyr365Cys) (Legacy AA No.346)

Variant Type:

Point

Domain:

Sequence Context:

TAT > TGT

Variant Effect:

Missense

Location:

Exon 8

No of bases:

No. of cases reported:

Allele Frequency (MAF):

6.54E-5

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
919						Mild		No	Cutler et al (2002)	United Kingdom
920						Mild		No	Cutler et al (2002)	United Kingdom
921	14					Mild	same as Goodeve et al?		De Brasi et al (conference abstract)	Argentina
922	33	115	0.29			Mild	same as Goodeve et al?		De Brasi et al (conference abstract)	Argentina
923	34	77	0.44			Mild	inverse 1st/2st discrepancy		De Brasi et al (conference abstract)	Argentina
924	16					Mild			De Brasi et al (conference abstract)	Argentina
925	12					Mild		No	Centre A6 (unpublished)
926	40	81	0.49			Mild	inverse 1st/2st discrepancy		Goodeve et al (conference abstract)	United Kingdom
927	14	68	0.21			Mild	inverse 1st/2st discrepancy		Goodeve et al (conference abstract)	United Kingdom
928	33	115	0.29			Mild	inverse 1st/2st discrepancy		Goodeve et al (conference abstract)	United Kingdom
929	1					Severe		No	Green et al (2008)	United Kingdom
930	3					Moderate		No	Green et al (2008)	United Kingdom
931	8					Mild		No	Green et al (2008)	United Kingdom
932									Green et al (2008)	United Kingdom
933	30					Mild		No	Green et al (2008)	United Kingdom
934	38					Mild		No	Green et al (2008)	United Kingdom
935	41					Mild		No	Green et al (2008)	United Kingdom
936	15					Mild		No	Green et al (2008)	United Kingdom
937									Green et al (2008)	United Kingdom
938	25	93	0.27			Mild	inverse 1st/2st discrepancy	No	Hill et al (2005)	United Kingdom
939	33	71	0.46			Mild	inverse 1st/2st discrepancy	No	Hill et al (2005)	United Kingdom
940	30					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
941	16					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
942						Mild	inverse 1st/2st discrepancy; related		Centre A5 (unpublished)
943						Mild	inverse 1st/2st discrepancy; related		Centre A5 (unpublished)
944	19					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
945	19					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
946	25					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
947	28					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
948	20					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
949	4					Moderate	inverse 1st/2st discrepancy		Centre A5 (unpublished)
950	18					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
951	33					Mild	inverse 1st/2st discrepancy		Centre A5 (unpublished)
952	1.7					Severe	also has frameshift c.3870delA	No	Kentsis et al (2009)	United States
953	26					Mild	related		Kentsis et al (2009)	United States
954	15					Mild		No	Centre A10 (unpublished)
955	30					Mild		No	Centre A10 (unpublished)
956	39					Mild		No	Centre A10 (unpublished)
957	24					Mild		No	Centre A10 (unpublished)
958	23.5	71	0.33			Mild	inverse 1st/2st discrepancy		Lyall et al (2008)	United Kingdom
959	31.5	65	0.48			Mild	inverse 1st/2st discrepancy		Lyall et al (2008)	United Kingdom
960	39.5	63	0.63			Mild	inverse 1st/2st discrepancy; related		Lyall et al (2008)	United Kingdom
961	18.5	53	0.35			Mild	inverse 1st/2st discrepancy; related		Lyall et al (2008)	United Kingdom
962	34	110	0.31	118	II	Mild	inverse 1st/2st discrepancy	No	Mumford et al (2002)	United Kingdom
963						Mild	unrelated	No	Repesse et al (2007)	France
964						Mild	unrelated	No	Repesse et al (2007)	France
965						Mild	unrelated	No	Repesse et al (2007)	France
6271	11					Mild		No	Johnsen et al (2017)	United States
6272	23					Mild		No	Johnsen et al (2017)	United States
6273	23					Mild		No	Johnsen et al (2017)	United States
6274	22					Mild			Johnsen et al (2017)	United States
6275	40					Mild		No	Johnsen et al (2017)	United States
6276	27					Mild		No	Johnsen et al (2017)	United States
6277	38					Mild		No	Johnsen et al (2017)	United States
6278	31					Mild		No	Johnsen et al (2017)	United States
6279	30					Mild		No	Johnsen et al (2017)	United States
6280	25					Mild		No	Johnsen et al (2017)	United States
9005	<1					Severe	also has p.Glu1292Argfs*16	No	Johnsen et al (2017)	United States
10051	22	58	0.40	103	II	Mild	male		Bowyer et al (2011)	United Kingdom
10052	17	47	0.40	74	II	Mild	male		Bowyer et al (2011)	United Kingdom
10053	23	64	0.40	120	II	Mild	male		Bowyer et al (2011)	United Kingdom
10054	22	43	0.50			Mild	male		Bowyer et al (2011)	United Kingdom
10055	22	60	0.40	91	II	Mild	male		Bowyer et al (2011)	United Kingdom
10056	37	97	0.40	188	II	Mild	male		Bowyer et al (2011)	United Kingdom
10057	30	80	0.40	138	II	Mild	male		Bowyer et al (2011)	United Kingdom
10058	34	77	0.40			Mild	male		Bowyer et al (2011)	United Kingdom
10059	41	96	0.40			Mild	male		Bowyer et al (2011)	United Kingdom
10060	37	61	0.60	86	II	Mild	male		Bowyer et al (2011)	United Kingdom
10061	17					Mild	male		Bowyer et al (2011)	United Kingdom
10062	14					Mild	male		Bowyer et al (2011)	United Kingdom
10063	34	105	0.30			Mild	male		Bowyer et al (2011)	United Kingdom
10064	25	85	0.30	111	II	Mild	male		Bowyer et al (2011)	United Kingdom
10065	17	64	0.30	71	II	Mild	male		Bowyer et al (2011)	United Kingdom
10066	19	64	0.30	68	II	Mild	male		Bowyer et al (2011)	United Kingdom
10067	31	106	0.30			Mild	male		Bowyer et al (2011)	United Kingdom
10068	20	45	0.40			Mild	male		Bowyer et al (2011)	United Kingdom
10069	19	69	0.30	105	II	Mild	male		Bowyer et al (2011)	United Kingdom
10070	13	35	0.40	63	II	Mild	male		Bowyer et al (2011)	United Kingdom
10071	9					Mild	male		Bowyer et al (2011)	United Kingdom
10072	36	109	0.30			Mild	male		Bowyer et al (2011)	United Kingdom
10073	26	81	0.30	117	II	Mild	male		Bowyer et al (2011)	United Kingdom
10074	26	81	0.30	138	II	Mild	male		Bowyer et al (2011)	United Kingdom
10075	38	151	0.30	195	II	Mild	male		Bowyer et al (2011)	United Kingdom
10076	19	62	0.30	137	II	Mild	male		Bowyer et al (2011)	United Kingdom
10077	27	45	0.60	67	II	Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10078	42	53	0.80			Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10079	33	70	0.50	121	II	Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10080	49	63	0.80	73	II	Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10081	44	57	0.80			Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10082	51					Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10083	81					Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10084	104					Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10085	80					Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10086	81					Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10087	86					Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10088	72	106	0.70			Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom
10089	34					Mild	Lyonized heterozygous female		Bowyer et al (2011)	United Kingdom

c.1095T>G

p.(Tyr365*) (Legacy AA No.346)

Variant Type:

Point

Domain:

Sequence Context:

TAT > TAG

Variant Effect:

Nonsense

Location:

Exon 8

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 8

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