Gene: BRAF ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177035
rs180177035
BRAF
0.810 GeneticVariation BEFREE Two brothers with clinical features of CFC and mutations in BRAF (c.770A > G, p.Gln257Arg) are described. 29704308

2018
dbSNP: rs180177034
rs180177034
BRAF
0.810 GeneticVariation BEFREE Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome. 20523244

2011
dbSNP: rs397507466
rs397507466
BRAF
0.810 GeneticVariation BEFREE We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS. 19416762

2009
dbSNP: rs180177037
rs180177037
BRAF
0.810 GeneticVariation BEFREE In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC. 18456719

2008
dbSNP: rs113488022
rs113488022
BRAF
0.710 GeneticVariation BEFREE Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. 20735442

2011
dbSNP: rs397507475
rs397507475
BRAF
0.710 GeneticVariation BEFREE A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. 20395089

2011