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	20	108	Type 2N	2560C>T	R854W	No	Wales		The mutation creates a restriction site More ...	Bowen et al., 1998
Same mutation	28	10	Type 2M	4273A>T	I1425F	Yes	USA	Montgomery	VWF:RCo = 4-13, VWF:Ag = 13-36, normal c More ...	Hillery et al, 1998
Same mutation	Deletion exons 22-43	6	Type 3	Not Determined	Null Allele	No	USA	Sadler	Deletion associated with inhibitory anti More ...	Mancuso et al., 1994
Same mutation	12	10	Type 2A	1309-1326del	D437-R442del	Yes	USA	Montgomery	VWF from abnormal allele has no ristocet More ...
Same mutation	31	6	Type 2M	5356C>G	H1786D	Yes	USA	Montgomery, ZPMCB-VWD	The mutation results in defective bindin More ...	Flood et al., 2010
Same mutation	28	4	Type 2A	4735G>A	G1579R	No	USA	Robert Montgomery
Same mutation	28	20	Type 2M	4173-4205 del	R1392-Q1402 del	Yes	USA	Montgomery	VWF:RCo = 3-8, VWF:Ag 14-35, normal mult More ...	Mancuso et al, 1996
Same mutation	52	2	Unclassified	8416T>C	C2806R	Yes	USA	Montgomery	VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 ban More ...
Same mutation	28	2	Type 2B	3916C>T	R1306W	No	USA	Montgomery
Same mutation	Deletion exons 33-38	6	Type 3	5621-269_6799-1161del	Null Allele	No	USA	Sadler	Deletion associated with inhibitory anti More ...	Mancuso et al., 1994