rs121913506, KIT

N. diseases: 24
Disease: Benign Mastocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Benign Mastocytoma
CUI: C2242987
Disease: Benign Mastocytoma
0.020 GeneticVariation BEFREE The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines. 9714703 1998
Benign Mastocytoma
CUI: C2242987
Disease: Benign Mastocytoma
0.020 GeneticVariation BEFREE Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine for aspartic acid (D814Y), has been described in the mouse mastocytoma cell line P815. 8962111 1996