Same mutation
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Unclassified 4121G>A R1374H No Netherlands Bertina Mutation associated with thrombocytopeni More ...
Unclassified 4121G>A R1374H Yes France Mazurier
Type 1 (Type 2A) 4121G>A R1374H No EU MCMDM-1VWD Mutation associated with an abnormal mul More ...
Type 2A 4121G>A R1374H No Spain Vidal VWF:Ag 43%, VWF:RCo 7%, FVIII:C 42%, ABO More ...
Type 2A 4121G>A R1374H No Spain Batlle VWF:Ag 21.7 IU/dL, VWF:RCo 5 IU/dL, VWF: More ...