Variant: rs121434594 

    present in Gene: RAF1
    present in Chromosome: 3
    Position on Chromosome: 12604189
    Alleles of this Variant: G/A;C;T

rs121434594 in RAF1 gene and Cardiomyopathy, Hypertrophic, Familial PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs121434594 in RAF1 gene and Noonan Syndrome PMID 17603487 2007 Selective loading of high-affinity peptides onto major histocompatibility complex class I molecules by the tapasin-ERp57 heterodimer.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 23885229 2013 Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

PMID 17603486 2007 Mast cell lineage diversion of T lineage precursors by the essential T cell transcription factor GATA-3.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

rs121434594 in RAF1 gene and Noonan Syndrome 5 PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

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

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.