Variant: rs180177038 

    present in Gene: BRAF
    present in Chromosome: 7
    Position on Chromosome: 140778007
    Alleles of this Variant: C/G;T

rs180177038 in BRAF gene and Asphyxia Neonatorum PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

rs180177038 in BRAF gene and Cardio-facio-cutaneous syndrome PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

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

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

rs180177038 in BRAF gene and Global developmental delay PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

rs180177038 in BRAF gene and Noonan Syndrome PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

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