Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
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Mutation comments
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Details found: 127
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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
99
Missense
E28
3797C>T
3797
P1266L
1266
Interdomain
Corrales et al. 2012
Described as Type 1 and 2B. Unknown phase
Clinical Data
ISTH mutations
249
Missense
E42
7150C>T
7150
R2384W
2384
Interdomain
Corrales et al. 2012
New. Unknown phase with other mutations
Clinical Data
ISTH mutations
276
Insertion
E38
6703insAGGC
6703
C2235X
2235
Interdomain
Corrales et al. 2012
New. Direct STOP. In trans with mutation c.5455+1G>A
Clinical Data
ISTH mutations
240
Missense
E28
3797T>C
3797
P1266L
1266
Interdomain
Corrales et al. 2012
Described as type 1, 2B and 2M. Unknown phase with 5046delT
Clinical Data
ISTH mutations
240
Deletion
E28
5046delT
5046
A1683HfsX10
1683
Interdomain
Corrales et al. 2012
New. Unknown phase with P1266L
Clinical Data
ISTH mutations
250
Missense
E20
2561G>A
2561
R854Q
854
Interdomain
Corrales et al. 2012
Described as type 2N. Unknown phase with F42F
Clinical Data
ISTH mutations
232
Missense
E20
2561G>A
2561
R854Q
854
Interdomain
Corrales et al. 2012
Described as type 1 and 2N
Clinical Data
ISTH mutations
223
Missense
E20
2561G>A
2561
R854Q
854
Interdomain
Corrales et al. 2012
Described as type 1 and 2N
Clinical Data
ISTH mutations
220
Missense
E42
7211G>T
7211
S2404M
2404
Interdomain
New
Clinical Data
ISTH mutations
196
Missense
E28
3788C>T
3788
S1263L
1263
Interdomain
Corrales et al. 2012
No mutation identified in the 2N region
Clinical Data
ISTH mutations
319
Missense
E34
5761C>T
5761
R1921W
1921
Interdomain
New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data
ISTH mutations
32
PSSM
E28
3744A>C
3744
T1248T
1248
Interdomain
Corrales et al. 2012
New
Clinical Data
ISTH mutations
348
Missense
E20
2561G>A
2561
R854Q
854
Interdomain
Described as type 2N
Clinical Data
ISTH mutations
93
Missense
E20
2561G>A
2561
R854Q
854
Interdomain
Described as type 1 or 2N. Unknown phase with mutation p.R1306Q
Clinical Data
ISTH mutations
51
Missense
E27
3614G>A
3614
R1205H
1205
Interdomain
Described as Type 1
Clinical Data
ISTH mutations
382
Missense
E20
2561G>A
2561
R854Q
854
Interdomain
Homozygous mutation. Described as type 2N
Clinical Data
ISTH mutations
99
PSSM
E28
3789G>A
3789
S1263S
1263
Interdomain
Corrales et al. 2012
Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data
ISTH mutations
264
Missense
E36
6189C>A
6187
P2063S
2063
D4
Described as SNP and as a mutation. Unknown phase
Clinical Data
ISTH mutations
32
Missense
E39
6890C>T
6890
P2297L
2297
D4
Corrales et al. 2012
New
Clinical Data
ISTH mutations
181
Missense
E36
6187C>T
6187
P2063S
2063
D4
Corrales et al. 2010