|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
|
rs137854556
|
|
Neurofibromatosis 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras.
|
9302992 |
1997 |
|
rs137854556
|
|
Neurofibromatosis 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
|
15060124 |
2004 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
9101300 |
1997 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
|
15060124 |
2004 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
|
2114220 |
1990 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
|
9150739 |
1997 |
|
rs137854556
|
|
Neurofibromatosis 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
|
22807134 |
2012 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
|
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
|
23047742 |
2013 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
|
15523642 |
2004 |
|
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
|
10712197 |
2000 |
|
rs137854556
|
|
Neurofibromatosis 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.
|
16513807 |
2006 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.
|
8834249 |
1996 |
|
rs137854556
|
|
Neurofibromatosis 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
|
26635368 |
2016 |
|
rs137854556
|
|
Neurofibromatosis 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
|
19221814 |
2009 |
|
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
|
22807134 |
2012 |
|
rs137854556
|
|
Neurofibromatosis 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
|
23668869 |
2013 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
17636453 |
2007 |
|
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
|
19221814 |
2009 |
|
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
|
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
|
9668168 |
1998 |
|
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
|
27322474 |
2016 |