Same mutation
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
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Comments
Unclassified 7599T>A C2533X No China Prof. Hongli Wang VWF:Rcof 4%; VWF:CB 5%; VWF:Ag 10%
Unclassified 3380-298_5843-1385del P1127_C1948delinsR No Italy Bernardi Result of Alu-mediated homologous recomb More ...
Unclassified 3702T>G C1234W No France French Network
Unclassified 7408C>T Q2470X No France French Network Mutation could be associated with type 2 More ...
Unclassified 4120C>A R1374S No France French Network
Unclassified 4135C>T R1379C ? Spain Casana
Unclassified 4120C>T R1374C Yes France Mazurier
Unclassified 1730-2A>G Not Applicable No China Prof. Hongli Wang Splice site mutation results in deletion More ...
Unclassified 3614G>T R1205L Yes France French Network The R1205H mutation is reported as type More ...
Unclassified 8416T>C C2806R Yes USA Montgomery VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 ban More ...
Unclassified 4105T>A F1369I No Normal multimers, decreased ristocetin c More ...
Unclassified 4121G>A R1374H No Netherlands Bertina Mutation associated with thrombocytopeni More ...
Unclassified 5191T>A S1731T Yes France French Network New variant of VWD with a defective bind More ...
Unclassified 3943C>T R1315C Yes France French Network rVWF shows decreased binding to GPIb.
Unclassified 4121G>A R1374H Yes France Mazurier
Unclassified 4121G>T R1374L Yes France & Algeria French Network One patient is compound heterozygous; R1 More ...
Unclassified 4384C>G P1462A No France French Network
Unclassified 4195C>T R1399C No France French Network One patient is homozygous, one patient i More ...
Unclassified 4148T>G L1383R No France French Network
Unclassified 6620T>C L2207P No France French Network The patient displays normal VWF multimer More ...