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	57	Deletion	E15	-	-	-	-	-	Corrales et al. 2012	New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	275	Deletion	E11-32	-	-	-	-	D2-A3		New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	1	Duplication	E13	-	-	-	-	-		New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	47	Nonsense	E3	100C>T	100	R34X	34	D1	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	288	Missense	E9	1109G>A	1109	C370Y	370	D1	Corrales et al. 2012	New
Clinical Data	ISTH mutations	81	Deletion	E11	1266delCTT	1266	423delF	423	D2	Corrales et al. 2012	In frame deletion
Clinical Data	ISTH mutations	250	PSSM	E3	126C>T	126	F42F	42	D1	Corrales et al. 2012	New. Unknown phase with R854Q
Clinical Data	ISTH mutations	152	PSSM	I13	1533+15G>A	-	-	-	-	Corrales et al. 2011
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	167	Missense	E14	1625C>G	1625	A542G	542	D2	Corrales et al. 2010	In homozygosis
Clinical Data	ISTH mutations	319	Missense	E14	1625C>G	1625	A542G	542	D2		In cis with mutation c.533-2A>G
Clinical Data	ISTH mutations	92	Missense	E14	1625C>G	1625	A542G	542	D2		In cis with mutation c.533-2A>G
Clinical Data	ISTH mutations	135	Missense	E14	1672G>T	1672	D558Y	558	D2	Corrales et al. 2010	Both mutations sould be in the same chromosome
Clinical Data	ISTH mutations	92	Missense	E14	1721>G	1721	P574R	574	D2		New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data	ISTH mutations	371	PSSM	I14	1729+3A>G	1729+3	-	-	-		New. In trans with mutation c.2820+1G>T
Clinical Data	ISTH mutations	72	Missense	E15	1781C>G	1781	A594G	594	D2	Corrales et al. 2009
Clinical Data	ISTH mutations	299	Missense	E15	1831G>A	1831	D611N	611	D2		New
Clinical Data	ISTH mutations	225	PSSM	I15	1945+9C>T	1945	-	-	-		New
Clinical Data	ISTH mutations	299	Deletion	E18	2430delC	2430	P812RfsX30	812	D'		Described
Clinical Data	ISTH mutations	42	Missense	E19	2446C>T	2446	R816W	816	D'	Corrales et al. 2009	In homozygosis