rs121913377, BRAF

N. diseases: 480
Disease: Tuberous Sclerosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
0.010 GeneticVariation BEFREE In the present study, we assessed the prevalence of the <i>BRAF</i> V600E mutation in a large cohort of TSC related SEGAs (n=58 patients including 56 with clinical TSC) and found no evidence of either <i>BRAF</i> V600E or other mutations in <i>BRAF.</i> To confirm that these SEGAs fit the classic model of two hit <i>TSC1</i> or <i>TSC2</i> inactivation, we also performed massively parallel sequencing of these loci. 29221145 2017