rs17292650, MPL

N. diseases: 3
Disease: Congenital amegakaryocytic thrombocytopenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital amegakaryocytic thrombocytopenia
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
0.010 GeneticVariation BEFREE Here we report unique familial cases of CAMT that presented with a previously unreported <i>MPL</i> mutation: T814C (W272R) in the background of the activating <i>MPL</i> G117T (K39N or Baltimore) mutation. 29296828 2017