EAHAD Factor VIII Variant Database

Search Results: 1 unique variant retrieved.

c.1636C>T

p.(Arg546Trp) (Legacy AA No.527)

Variant Type:

Point

Domain:

Sequence Context:

CGG > TGG

Variant Effect:

Missense

Location:

Exon 11

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
1371									Centre A26 (unpublished)
1372						Mild			Bogdanova et al (2001)	Germany
1373						Mild			Bogdanova et al (2001)	Germany
1374	25					Mild	all unrelated	No	Bogdanova et al (2007)	Germany
1375	15					Mild	all unrelated	No	Bogdanova et al (2007)	Germany
1376						Mild	all unrelated	No	Bogdanova et al (2007)	Germany
1377	24					Mild	all unrelated	No	Bogdanova et al (2007)	Germany
1378	16					Mild	all unrelated	No	Bogdanova et al (2007)	Germany
1379						Mild	all unrelated	No	Bogdanova et al (2007)	Germany
1380	27	13	2.08	199	I	Mild	1st>Chr discrepancy		Cid et al (2008)	Spain
1381	26					Mild			Cutler et al (2002)	United Kingdom
1382	12					Mild	same family	No	David et al (2006)	Portugal
1383							same family		David et al (2006)	Portugal
1384	35					Mild		No	Centre A6 (unpublished)
1385	42					Mild		No	Centre A6 (unpublished)
1386	12					Mild		No	Centre A24 (unpublished)
1387	13					Mild		No	Green et al (2008)	United Kingdom
1388	9					Mild		No	Green et al (2008)	United Kingdom
1389	17					Mild		No	Green et al (2008)	United Kingdom
1390	21					Mild		No	Green et al (2008)	United Kingdom
1391	24					Mild		No	Habart et al (2003)	Czech Republic
1392	15			>50		Mild			Higuchi et al (1991a)	United States
1393	18			85	II	Mild			Higuchi et al (1991a)	United States
1394	18			154	II	Mild			Higuchi et al (1991a)	United States
1395	3					Moderate		No	Jayandharan et al (2005)	India
1396	15					Mild			Centre A5 (unpublished)
1397	12					Mild			Centre A5 (unpublished)
1398	15					Mild			Centre A5 (unpublished)
1399	2.3					Moderate			Lin et al (2008)	Taiwan
1400	20			120	II	Mild		No	Liu et al (1998)	United States
1401	22	13	1.69	105	I	Mild	1-st/2-st FVIII:C discrepancy	No	Mazurier et al (1997)	France
1402	31	16	1.94	98	II	Mild	1-st/2-st FVIII:C discrepancy	No	Mazurier et al (1997)	France
1403	34	10	3.40	150	II	Mild	1-st/2-st FVIII:C discrepancy	No	Mazurier et al (1997)	France
1404	17			245	II	Mild			McGinniss et al (1993)	United States
1405	9			24	II	Mild		No	Pieneman et al (1995)	Netherlands
1406						Mild	related	No	Repesse et al (2007)	France
1407						Mild	related	No	Repesse et al (2007)	France
1408	17					Mild		No	Schwaab et al (1995a)	Germany
1409	10			43	II	Mild		No	Schwaab et al (1995a)	Germany
1410	12			95	II	Mild		No	Schwaab et al (1995a)	Germany
1411	23			>50		Mild		No	Schwaab et al (1995a)	Germany
1412	10			100	II	Mild			Schwaab et al (1997)	Germany
1413	15			126	II	Mild		No	Schwaab et al (1997)	Germany
1414	15					Mild		No	Waseem et al (1999)	United Kingdom
1415	19					Moderate		No	Centre A1 (unpublished)
6533	24					Mild		No	Johnsen et al (2017)	United States
6534	16					Mild			Johnsen et al (2017)	United States
6535	12					Mild			Johnsen et al (2017)	United States
6536	22.33					Mild			Johnsen et al (2017)	United States
6537	16					Mild		No	Johnsen et al (2017)	United States
6538	21					Mild		No	Johnsen et al (2017)	United States
6539	21					Mild			Johnsen et al (2017)	United States
6540	22					Mild			Johnsen et al (2017)	United States
6541	19					Mild			Johnsen et al (2017)	United States
6542	13					Mild			Johnsen et al (2017)	United States
6543	15					Mild			Johnsen et al (2017)	United States
6544	15					Mild		No	Johnsen et al (2017)	United States
6545	29					Mild			Johnsen et al (2017)	United States
6546	20					Mild		No	Johnsen et al (2017)	United States
6547	21					Mild		No	Johnsen et al (2017)	United States
6548	9					Mild		No	Johnsen et al (2017)	United States
6549	20					Mild		No	Johnsen et al (2017)	United States
6550	20					Mild		No	Johnsen et al (2017)	United States
6551	18					Mild		No	Johnsen et al (2017)	United States
6552	22					Mild		No	Johnsen et al (2017)	United States
6553	23					Mild		No	Johnsen et al (2017)	United States
6554	39					Mild		No	Johnsen et al (2017)	United States
6555	13					Mild		No	Johnsen et al (2017)	United States
6556	25					Mild			Johnsen et al (2017)	United States
6557	24					Mild		No	Johnsen et al (2017)	United States
6558	37					Mild		No	Johnsen et al (2017)	United States
6559	13					Mild		No	Johnsen et al (2017)	United States
6560	16.5					Mild			Johnsen et al (2017)	United States
6561	19					Mild		No	Johnsen et al (2017)	United States
6562	18					Mild			Johnsen et al (2017)	United States
6563	34					Mild		No	Johnsen et al (2017)	United States
6564	8					Mild		No	Johnsen et al (2017)	United States
6565	4					Moderate		No	Johnsen et al (2017)	United States
6566	21					Mild		No	Johnsen et al (2017)	United States
6567	29					Mild			Johnsen et al (2017)	United States
6568	34					Mild			Johnsen et al (2017)	United States
9436						Mild		No	Margaglione et al (2008)	Italy
9437						Mild		No	Margaglione et al (2008)	Italy
9438						Mild		No	Margaglione et al (2008)	Italy
9439						Mild		No	Margaglione et al (2008)	Italy
9897						Mild		No	Viel et al (2009)	United States
10423						Mild		No	Centre A11 (unpublished)

Factor VIII Gene (F8) Variant Database