Disease: Cardio-facio-cutaneous syndrome ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		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