rs121913513, KIT

N. diseases: 10
Disease: Undifferentiated (Embryonal) Sarcoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Undifferentiated (Embryonal) Sarcoma
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
0.010 GeneticVariation BEFREE Our results revealed 2 mutations in 2 recurrent lesion samples, including one in exon 11 of the KIT gene, resulting in a T-C substitution at position 1727 (L576P), the recurrent sample underwent histologic progression with "pleomorphic undifferentiated sarcoma-like" transformation; the other mutation was in exon 19 of the phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) gene, resulting in a G-A substitution at position 1624 (E542K). 25120743 2014