Variant: rs397516830 

    present in Gene: RAF1
    present in Chromosome: 3
    Position on Chromosome: 12604182
    Alleles of this Variant: A/C;G;T

rs397516830 in RAF1 gene and NOONAN SYNDROME 3 PMID 22821648 2012 Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.

rs397516830 in RAF1 gene and Noonan Syndrome PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603488 2007 Redox regulation of peptide receptivity of major histocompatibility complex class I molecules by ERp57 and tapasin.

rs397516830 in RAF1 gene and Noonan Syndrome 5 PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

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

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.