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 1 Duplication E13 - - - - - New mutation identified by MPLA analysis
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 2 PSSM I45 7730-1G>C - - - - Corrales et al. 2011 In homozygosis
Clinical Data ISTH mutations 7 Deletion E29 5096delC 5096 S1700PfsX11 1700 A3 Corrales et al. 2012 New
Clinical Data ISTH mutations 8 Missense E28 4121G>A 4121 R1374H 1374 A1 Corrales et al. 2009
Clinical Data ISTH mutations 9 Missense E28 4946T>A 4946 I1649N 1649 A2 Corrales et al. 2010
Clinical Data ISTH mutations 10 Insertion E45 7664-7665insAG - C2557SfsX8 - C2 Corrales et al. 2009 In homozygosis
Clinical Data ISTH mutations 11 Missense E28 4628C>T 4628 S1543F 1543 A2 Corrales et al. 2010
Clinical Data ISTH mutations 12 Missense E28 4883T>C 4883 I1628T 1628 A2 Corrales et al. 2010
Clinical Data ISTH mutations 15 Missense E28 3797C>T 3797 P1266L 1266 - Corrales et al. 2010 Compound heterozygous in trans
Clinical Data ISTH mutations 15 Missense E28 4883T>C 4883 I1628T 1628 A2 Corrales et al. 2010 Compound heterozygous in trans
Clinical Data ISTH mutations 23 Nonsense E43 7408C>T 7408 Q2470X 2470 C2 Corrales et al. 2012 Compound heterozygous in trans with mutation p.Q2783X
Clinical Data ISTH mutations 23 Nonsense E52 8347C>T 8347 Q2783X 2783 CK Corrales et al. 2012 New. Compound heterozygous in trans with mutation p.Q2470X
Clinical Data ISTH mutations 25 PSSM I50 8155+3G>C - - - - Corrales et al. 2011 No donor splice prediction
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 E6 546G>A 546 S182S 182 D1 Corrales et al. 2011 Sinonymous mutation. Potential affected acceptor splice site of intron 5.
Clinical Data ISTH mutations 28 Missense E28 4121G>A 4121 R1374H 1374 A1 Corrales et al. 2009
Clinical Data ISTH mutations 32 PSSM E28 3744A>C 3744 T1248T 1248 Interdomain Corrales et al. 2012 New
Clinical Data ISTH mutations 32 Missense E39 6890C>T 6890 P2297L 2297 D4 Corrales et al. 2012 New
Clinical Data ISTH mutations 37 Missense E28 3835G>T 3835 V1279F 1279 A1 Corrales et al. 2009 Previously described as 2M.