rs121913377, BRAF

N. diseases: 480
Disease: Clear Cell Sarcoma of Soft Tissue ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Clear Cell Sarcoma of Soft Tissue
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
0.020 GeneticVariation BEFREE Analysis of frozen and fixed material from 21 CCS and 21 MM showed the presence of the V600E BRAF mutation in 2/12 EWSR1+ and 3/9 EWSR1- CCS and 9/21 MM and demonstrated a significant (P < 0.001) correlation between the gain of chromosomes 22 and 8 and EWSR1- CCS. 22045652 2012
Clear Cell Sarcoma of Soft Tissue
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
0.020 GeneticVariation BEFREE Both conventional melanomas had the exon 15 T1796A (V599E) mutation, but none of the MMSP was found to harbor any mutation in exon 11 or 15 of the BRAF gene. 15588860 2005