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 Deletion VWF 20 Type 3 -44001_8442*35068del Null Allele No Italy Zimmerman Result of non-homologous recombination. More ... Ngo et al., 1988
Same mutation 28 200 Type 2B 3910A>G M1304V No Argentina Woods Heterozygote patients (a boy, his mother More ...
Same mutation 3 200 Type 3 100C>T R34X No Spain Vidal Homozygous mutation. Corrales et al., 2009
Same mutation 28 200 Type 3 3835G>A V1279I No Pakistan Vidal Identified as part of a homozygous gene More ... Corrales et al., 2009
Same mutation 26 200 Type 3 3467C>T T1156M No Spain Vidal Compound heterozygous mutation found in More ...
Same mutation 35 200 Type 1 5890C>A Q1964K No Spain Vidal VWF:Ag 33%, VWF:RCo 42%, FVIII:C 45%. Pa More ...
Same mutation 45 200 Type 3 7664_7665insAG C2557SfsX8 No Spain Vidal Homozygous mutation. Corrales et al., 2009
Same mutation 46 200 Type 1 / 3 7730-1G>C Not Determined Yes Spain Vidal Compound heterozygous mutation in trans More ... Corrales et al., 2009
Same mutation 28 200 Type 2A 4628C>T S1543F No Spain Vidal VWF:Ag 57%, VWF:RCo 9%, FVIII:C 45%, ABO More ...
Same mutation 15 200 Type 1 1781C>G A594G No Spain Vidal VWF:Ag 37%, VWF:RCo 38%, FVIII:C 63%, AB More ... Corrales et al., 2009