ISTH mutations

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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.
27		Unclassified	3614G>A	R1205H	Yes	France	French Network	All patients have VWD with a phenotype Vicenza.
27	100	Type 2M	3614G>A	R1205H	?	Italy	Schneppenheim	Found also in one German patient and in a Chinese family with 3 affected members More ...	Schneppenheim et al, 2000
27	124	Type 1	3614G>A	R1205H	No	Spain	Casana	Mutation identified in five unrelated families. It was linked to the different h More ...
27		Type 1	3614G>A	R1205H	Yes	England	UKHCDO	The group believes the mutation to be correctly associated with either a moderat More ...	Cumming et al., 2006
27	40	Type 1	3614G>A	R1205H	No	EU	MCMDM-1VWD	Mutation associated with an abnormal multimer pattern. Mutation identified in 10 More ...	Goodeve et al., 2007
27	18	Type 1	3614G>A	R1205H	No	Canada	Lillicrap		James et al., 2007