Variant: rs137854550 

    present in Gene: NF1
    present in Chromosome: 17
    Position on Chromosome: 31258500
    Alleles of this Variant: A/C;G

rs137854550 in NF1 gene and Neoplastic Syndromes, Hereditary PMID 29415745 2018 Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.

PMID 27716896 2017 Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

rs137854550 in NF1 gene and Neurofibromatosis 1 PMID 22155606 2011 Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

PMID 17636453 2007 Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 8834249 1996 Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.

PMID 8081387 1994 Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

PMID 22807134 2012 Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

PMID 9668168 1998 Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

PMID 9003501 1997 Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

PMID 9298829 1997 Six novel mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 9101300 1997 Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 21838856 2011 Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

PMID 24413922 2014 The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 7981679 1994 Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

PMID 2114220 1990 A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

PMID 23758643 2013 Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

PMID 9150739 1997 Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.

PMID 27322474 2016 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.

PMID 16380919 2005 NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

PMID 8264648 1994 Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes.

PMID 15060124 2004 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.

PMID 15520408 2004 Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

PMID 12552569 2003 NF1 gene analysis based on DHPLC.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 1568247 1992 Somatic mutations in the neurofibromatosis 1 gene in human tumors.

PMID 15146469 2004 Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

PMID 15523642 2004 Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

PMID 12746402 2003 NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

PMID 1302608 1992 Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

PMID 14722917 2004 Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

PMID 10607834 2000 Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

PMID 11857752 2002 NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

PMID 16786508 2006 The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

rs137854550 in NF1 gene and Neurofibromatosis-Noonan syndrome PMID 16380919 2005 NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

PMID 19845691 2009 Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

PMID 12707950 2003 Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).