ISTH VWF Database

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Search for:     Any field VWD Classification Exon No Nucleotide Change Amino Acid Substitution Alleles Functional Studies Country Laboratory Comments Reference Ref.   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

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	Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
Same mutation	4	10	Unclassified	260A>C	Y87S	Yes	USA	Montgomery		Rosenberg et al., 2002
Same mutation	18		Type 2N	2384A>G	Y795C	Yes	France	French Network	Mutation associated with R854Q on the ot More ...	Hilbert et al., 2004
Same mutation	18	200	Type 2N	2384A>G	Y795C	Yes	Germany	Schneppenheim	Patient also compound heterozygous for 4 More ...	Schneppenheim et al., 2004
Same mutation	15	108	Type 3	1830C>A	Y610X	No	Italy	Federici / Mannucci	Patient compound heterozygous with mutat More ...	Baronciani et al., 2003
Same mutation	9		Type 2N	1071C>A	Y357X	No	France	Mazurier		Mazurier et al., 2002
Same mutation	42	24	Type 3	7176T>G	Y2392X	No	Turkey	Peake	This mutation was found in two type 3 VW More ...
Same mutation	28	48	Type 1	4751A>G	Y1584C	Yes	Canada	Lillicrap	Previously reported as a polymorphism.	O'Brien et al, 2003; James et al., 2007
Same mutation	28	106	Type 1	4751A>G	Y1584C	No	EU	MCMDM-1VWD	Mutation associated with a normal multim More ...	Goodeve et al., 2007
Same mutation	28	100	Type 1	4751A>G	Y1584C	No	Spain	Batlle	VWF:Ag 30 IU/dL, VWF:RCo 40 IU/dL, FVIII More ...
Same mutation	28	108	Type 3	4626C>G	Y1542X	No	Italy	Federici/Mannucci	Patient homozygous for the nonsense muta More ...	Baronciani et al, 2000