Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507475
rs397507475
BRAF
G 0.710 GeneticVariation CLINVAR Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review. 21871821

2012
dbSNP: rs397507475
rs397507475
BRAF
G 0.710 GeneticVariation CLINVAR 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
dbSNP: rs397507475
rs397507475
BRAF
G 0.710 GeneticVariation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007