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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.

 

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