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	32	100	Type 1	5545G>A	V1850M	No	England	UKHCDO	This mutation did not completely segrega More ...	Cumming et al., 2006
Same mutation	24	206	Type 1	3179G>A	C1060Y	No	EU	MCMDM-1VWD	Mutation heterozygous. VWF:Ag 36IU/dL, V More ...	Hampshire et al., 2010
Same mutation	37	212	Type 1	6433C>T	P2145S	No	EU	MCMDM-1VWD	Mutation associated with a normal multim More ...	Goodeve et al., 2007
Same mutation	25	6	Type 1	3281T>C	I1094T	No	EU	MCMDM-1VWD	Mutation associated with a normal multim More ...	Goodeve et al., 2007
Same mutation	37	2	Type 1	6311C>T	T2104I	No	Canada	Lillicrap		James et al., 2007
Same mutation	36	10	Type 1	6187C>T	P2063S	No	Canada	Lillicrap	Occurred with a frequency of 0.25 in una More ...	James et al., 2007
Same mutation	25	2	Type 1	3332G>A	C1111Y	No	Canada	Lillicrap		James et al., 2007
Same mutation	25		Type 1	3379+1G>A	N/A	No	England	UKHCDO		Cumming et al., 2006
Same mutation	26		Type 1	3430T>G	W1144G	Yes	USA	Montgomery	By virtue of mutation, VWF clearance is More ...	Haberichter et al., 2006
Same mutation	35	200	Type 1	5890C>A	Q1964K	No	Spain	Vidal	VWF:Ag 33%, VWF:RCo 42%, FVIII:C 45%. Pa More ...