Variant: rs869025195 

    present in Gene: RIT1
    present in Chromosome: 1
    Position on Chromosome: 155904493
    Alleles of this Variant: T/G

rs869025195 in RIT1 gene and Dysmorphic features PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

rs869025195 in RIT1 gene and Multiple congenital anomalies PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.