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
|
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 |
rs137854556
|
|
Neurofibromatosis 1
|
C |
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 |
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
|
24951259 |
2015 |
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
|
24413922 |
2014 |
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
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
|
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
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
|
23668869 |
2013 |
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
|
23758643 |
2013 |
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
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.
|
21838856 |
2011 |
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
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 |
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
|
19221814 |
2009 |
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
|
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
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
|
16479075 |
2006 |
rs137854556
|
|
Neurofibromatosis 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
|
16479075 |
2006 |
rs137854556
|
|
Neurofibromatosis 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).
|
15520408 |
2004 |
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 |
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 |