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VWD Classification
Exon No
Nucleotide Change
Amino Acid Substitution
Alleles
Functional Studies
Country
Laboratory
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Details found: 589
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
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
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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
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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
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Same mutation
27
Unclassified
3614G>T
R1205L
Yes
France
French Network
The R1205H mutation is reported as type
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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
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