Variant: rs121913520 

    present in Gene: KIT
    present in Chromosome: 4
    Position on Chromosome: 54727443
    Alleles of this Variant: G/A

rs121913520 in KIT gene and Chronic myeloproliferative disorder PMID 19175693 2009 Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913520 in KIT gene and Gastrointestinal Stromal Tumors PMID 17259998 2007 These results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy.

PMID 21689725 2011 Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

PMID 23582185 2013 Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.