Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data ISTH mutations 319 PSSM I5 533-2A>G 533-2 - - - In cis with mutation p.A542G
Clinical Data ISTH mutations 171 PSSM I7 874+8G>A 874+8 - - - Corrales et al. 2012 New
Clinical Data ISTH mutations 1 Duplication E13 - - - - - New mutation identified by MPLA analysis
Clinical Data ISTH mutations 264 PSSM E35 5843-8C>G 5843 - - - Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data ISTH mutations 92 PSSM I5 533-2A>G 533-2 - - - Corrales et al. 2011 In cis with mutation p.A542G
Clinical Data ISTH mutations 275 Deletion E11-32 - - - - D2-A3 New mutation identified by MPLA analysis
Clinical Data ISTH mutations 276 PSSM I31 5455+1G>A 5455+1 - - - Corrales et al. 2012 New. In trans with mutation p.C2235X
Clinical Data ISTH mutations 57 Deletion E15 - - - - - Corrales et al. 2012 New mutation identified by MPLA analysis
Clinical Data ISTH mutations 276 PSSM I47 7887+12T>C 7887+12 - - -
Clinical Data ISTH mutations 197 PSSM I45 7730-1G>C - - - - Corrales et al. 2011
Clinical Data ISTH mutations 271 PSSM I45 7730-1G>C - - - - Corrales et al. 2011 Compound heterozygous in trans
Clinical Data ISTH mutations 225 PSSM I15 1945+9C>T 1945 - - - New
Clinical Data ISTH mutations 295 Insertion E19 2540-2541insA - N847KfsX18 - D' Corrales et al. 2010 In homozygosis
Clinical Data ISTH mutations 51 PSSM I13 1533+15G>A 1533+15 - - - Described in our lab as Type 1, but no RNA afectation was described
Clinical Data ISTH mutations 10 Insertion E45 7664-7665insAG - C2557SfsX8 - C2 Corrales et al. 2009 In homozygosis
Clinical Data ISTH mutations 25 PSSM I41 7082-2A>G - - - - Corrales et al. 2011 Native acceptor splice site destroyed
Clinical Data ISTH mutations 25 PSSM I50 8155+3G>C - - - - Corrales et al. 2011 No donor splice prediction
Clinical Data ISTH mutations 2 PSSM I29 5170+10C>T - - - - Corrales et al. 2011 Also described as a polymorphism in the ISTH database. Mutation in homozygosis.
Clinical Data ISTH mutations 371 PSSM I21 2820+1G>T 2820+1 - - - New. In trans with mutation c.1729+3A>G
Clinical Data ISTH mutations 371 PSSM I14 1729+3A>G 1729+3 - - - New. In trans with mutation c.2820+1G>T