ISTH VWF Database
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
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Comments
Ref.
Same mutation 45 2 Unclassified 7599T>A C2533X No China Prof. Hongli Wang VWF:Rcof 4%; VWF:CB 5%; VWF:Ag 10%
Same mutation Deletion exons 26-34 158 Unclassified 3380-298_5843-1385del P1127_C1948delinsR No Italy Bernardi Result of Alu-mediated homologous recomb More ... Bernardi et al., 1990; Bernardi et al., 1993
Same mutation 28 Unclassified 3702T>G C1234W No France French Network
Same mutation 43 Unclassified 7408C>T Q2470X No France French Network Mutation could be associated with type 2 More ... Hilbert et al., 2002
Same mutation 28 Unclassified 4120C>A R1374S No France French Network
Same mutation 28 110 Unclassified 4135C>T R1379C ? Spain Casana Casaņa et al, 2001
Same mutation 28 Unclassified 4120C>T R1374C Yes France Mazurier Hilbert et al, 1995b
Same mutation 15 2 Unclassified 1730-2A>G Not Applicable No China Prof. Hongli Wang Splice site mutation results in deletion More ...
Same mutation 27 Unclassified 3614G>T R1205L Yes France French Network The R1205H mutation is reported as type More ... Gaucher et al, 1997; de Romeuf et al, 1997
Same mutation 52 2 Unclassified 8416T>C C2806R Yes USA Montgomery VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 ban More ...