Variant: rs1064794276 

    present in Gene: NF1
    present in Chromosome: 17
    Position on Chromosome: 31235639
    Alleles of this Variant: TTTG/-

rs1064794276 in NF1 gene and Dysmorphic features PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 23165953 2012 Increased risk of breast cancer in women with NF1.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

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 19117870 2009 Neurofibromatosis type 1 revisited.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 17105749 2007 Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

PMID 1770531 1991 Watson syndrome: is it a subtype of type 1 neurofibromatosis?

PMID 19539839 2009 Neurofibromatosis type 1.

PMID 18172006 2008 Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 20142468 2010 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 17369502 2007 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

PMID 6025371 1967 Pulmonary stenosis, café-au-lait spots, and dull intelligence.

PMID 25324428 2015 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 28213670 2017 Emerging genotype-phenotype relationships in patients with large NF1 deletions.

PMID 16786042 2006 A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 9375928 1997 Do NF1 gene deletions result in a characteristic phenotype?

PMID 16542390 2006 Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 24219125 2014 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 25951773 2016 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.

PMID 27170677 2017 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.

PMID 23354915 2013 Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

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.

rs1064794276 in NF1 gene and Neurofibromatosis 1 PMID 18546366 2008 Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

PMID 10712197 2000 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.