ISTH VWF Database
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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
27
124
Type 1
3614G>A
R1205H
No
Spain
Casana
Mutation identified in five unrelated fa
More ...
Same mutation
28
22
Type 1
4808T>C
L1603P
No
Turkey
Berber
VWF:Ag=14.5IU/dl, VWF:RCo=7IU/dl, FVIII:
More ...
Same mutation
28
Type 2A
4790G>T
R1597L
No
France
French Network
Same mutation
28
100
Type 2A
4790G>A
R1597Q
No
France
Meyer
Presented by Lavergne et al, at the ISTH
More ...
Same mutation
28
Type 2A
4790G>A
R1597Q
No
Meyer
Same mutation
28
Type 2A
4790G>A
R1597Q
No
Sixma
Same mutation
27
6
Type 2M / Type 3
3586T>C
C1196R
No
UK
Two patients heterozygous for the mutati
More ...
Same mutation
28
Type 2A
4789C>T
R1597W
?
Japan
Saito
Same mutation
28
Type 2A
4789C>T
R1597W
?
England
Peake
Same mutation
28
Type 2A
4789C>T
R1597W
?
Sixma